Zellweger Syndrome

What is Zellweger Syndrome?

Zellweger syndrome is one of a group of four related diseases called peroxisome biogenesis disorders (PBD), which are part of a larger group of diseases known as the leukodystrophies. These are inherited conditions that damage the white matter of the brain and also affect how the body metabolizes particular substances in the blood and organ tissues. Zellweger syndrome is the most severe of the PBDs. Infantile Refsum disease (IRD) is the mildest, and neonatal adrenoleukodystrophy and rhizomelic chondrodysplasia have similar but less severe symptoms. The PBDs are caused by defects in genes that are active in brain development and the formation of myelin, the whitish substance found in the cerebral cortex area of the brain. After birth, defects in the same genes reduce or eliminate the presence of peroxisomes – cell structures that break down toxic substances in the cells of the liver, kidneys, and brain. As a result, in Zellweger syndrome, high levels of iron and copper build up in blood and tissue and cause the characteristic symptoms of the disease. These symptoms include an enlarged liver; facial deformities such as a high forehead, underdeveloped eyebrow ridges, and deformed ear lobes; and neurological abnormalities, such as mental retardation and seizures. Infants with Zellweger syndrome also lack muscle tone, sometimes to the point of being unable to move, and may not be able to suck or swallow. Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding may also occur.
Is there any treatment?
There is no cure for Zellweger syndrome, nor is there a standard course of treatment. Since the metabolic and neurological abnormalities that cause the symptoms of Zellweger syndrome are caused during fetal development, treatments to correct these abnormalities after birth are limited. Most treatments are symptomatic and supportive.
What is the prognosis?
The prognosis for infants with Zellweger syndrome is poor. Most infants do not survive past the first 6 months, and usually succumb to respiratory distress, gastrointestinal bleeding, or liver failure.
What research is being done?
The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research exploring the molecular and genetic basis of Zellweger syndrome and the other PBDs in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as Zellweger syndrome.

Wernicke-Korsakoff Syndrome

What is Wernicke-Korsakoff Syndrome?

Wernicke's encephalopathy is a degenerative brain disorder caused by the lack of thiamine (vitamin B1). It may result from alcohol abuse, dietary deficiencies, prolonged vomiting, eating disorders, or the effects of chemotherapy. Symptoms include mental confusion, vision impairment, stupor, coma, hypothermia, hypotension, and ataxia. Korsakoff's amnesic syndrome-a memory disorder-also results from a deficiency of thiamine, and is associated with alcoholism. The heart, vascular, and nervous system are involved. Symptoms include amnesia, confabulation, attention deficit, disorientation, and vision impairment. The main features of Korsakoff's amnesic syndrome are the impairments in acquiring new information or establishing new memories, and in retrieving previous memories. Although Wernicke's and Korsakoff's may appear to be two different disorders, they are generally considered to be different stages of the same disorder, which is called Wernicke-Korsakoff syndrome. Wernicke's encephalopathy represents the "acute" phase of the disorder, and Korsakoff's amnesic syndrome represents the "chronic" phase.
Is there any treatment?
Treatment involves replacement of thiamine and providing proper nutrition and hydration. In some cases, drug therapy is also recommended.
What is the prognosis?
Most symptoms can be reversed if detected and treated promptly. However, improvement in memory function is slow and, usually, incomplete. Without treatment, these disorders can be disabling and life-threatening

Tethered Spinal Cord Syndrome

What is Tethered Spinal Cord Syndrome?

Tethered spinal cord syndrome is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column. These attachments cause an abnormal stretching of the spinal cord. The course of the disorder is progressive. In children, symptoms may include lesions, hairy patches, dimples, or fatty tumors on the lower back; foot and spinal deformities; weakness in the legs; low back pain; scoliosis; and incontinence. Tethered spinal cord syndrome may go undiagnosed until adulthood, when sensory and motor problems and loss of bowel and bladder control emerge. This delayed presentation of symptoms is related to the degree of strain placed on the spinal cord over time. Tethered spinal cord syndrome appears to be the result of improper growth of the neural tube during fetal development, and is closely linked to spina bifida. Tethering may also develop after spinal cord injury and scar tissue can block the flow of fluids around the spinal cord. Fluid pressure may cause cysts to form in the spinal cord, a condition called syringomyelia. This can lead to additional loss of movement, feeling or the onset of pain or autonomic symptoms.
Is there any treatment?
In children, early surgery is recommended to prevent further neurological deterioration. If surgery is not advisable, spinal cord nerve roots may be cut to relieve pain. In adults, surgery to free (detether) the spinal cord can reduce the size and further development of cysts in the cord and may restore some function or alleviate other symptoms. Other treatment is symptomatic and supportive.
What is the prognosis?
With treatment, individuals with tethered spinal cord syndrome have a normal life expectancy. However, some neurological and motor impairments may not be fully correctable.

Traumatic Brain Injury

What is Traumatic Brain Injury?
Traumatic brain injury (TBI), also called acquired brain injury or simply head injury, occurs when a sudden trauma causes damage to the brain. TBI can result when the head suddenly and violently hits an object, or when an object pierces the skull and enters brain tissue. Symptoms of a TBI can be mild, moderate, or severe, depending on the extent of the damage to the brain. A person with a mild TBI may remain conscious or may experience a loss of consciousness for a few seconds or minutes. Other symptoms of mild TBI include headache, confusion, lightheadedness, dizziness, blurred vision or tired eyes, ringing in the ears, bad taste in the mouth, fatigue or lethargy, a change in sleep patterns, behavioral or mood changes, and trouble with memory, concentration, attention, or thinking. A person with a moderate or severe TBI may show these same symptoms, but may also have a headache that gets worse or does not go away, repeated vomiting or nausea, convulsions or seizures, an inability to awaken from sleep, dilation of one or both pupils of the eyes, slurred speech, weakness or numbness in the extremities, loss of coordination, and increased confusion, restlessness, or agitation.
Is there any treatment?
Anyone with signs of moderate or severe TBI should receive medical attention as soon as possible. Because little can be done to reverse the initial brain damage caused by trauma, medical personnel try to stabilize an individual with TBI and focus on preventing further injury. Primary concerns include insuring proper oxygen supply to the brain and the rest of the body, maintaining adequate blood flow, and controlling blood pressure. Imaging tests help in determining the diagnosis and prognosis of a TBI patient. Patients with mild to moderate injuries may receive skull and neck X-rays to check for bone fractures or spinal instability. For moderate to severe cases, the imaging test is a computed tomography (CT) scan. Moderately to severely injured patients receive rehabilitation that involves individually tailored treatment programs in the areas of physical therapy, occupational therapy, speech/language therapy, physiatry (physical medicine), psychology/psychiatry, and social support.
What is the prognosis?
Approximately half of severely head-injured patients will need surgery to remove or repair hematomas (ruptured blood vessels) or contusions (bruised brain tissue). Disabilities resulting from a TBI depend upon the severity of the injury, the location of the injury, and the age and general health of the individual. Some common disabilities include problems with cognition (thinking, memory, and reasoning), sensory processing (sight, hearing, touch, taste, and smell), communication (expression and understanding), and behavior or mental health (depression, anxiety, personality changes, aggression, acting out, and social inappropriateness). More serious head injuries may result in stupor, an unresponsive state, but one in which an individual can be aroused briefly by a strong stimulus, such as sharp pain; coma, a state in which an individual is totally unconscious, unresponsive, unaware, and unarousable; vegetative state, in which an individual is unconscious and unaware of his or her surroundings, but continues to have a sleep-wake cycle and periods of alertness; and a persistent vegetative state (PVS), in which an individual stays in a vegetative state for more than a month.

Tay-Sachs Disease

What is Tay-Sachs Disease?

Tay-Sachs disease is a fatal genetic lipid storage disorder in which harmful quantities of a fatty substance called ganglioside GM2 build up in tissues and nerve cells in the brain. The condition is caused by insufficient activity of an enzyme called beta-hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain develops.
Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then, as nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in. Other neurological symptoms include dementia, seizures, and an increased startle reflex to noise. A much rarer form of the disorder occurs in patients in their twenties and early thirties and is characterized by an unsteady gait and progressive neurological deterioration. Persons with Tay-Sachs also have "cherry-red" spots in their eyes. The incidence of Tay-Sachs is particularly high among people of Eastern European and Askhenazi Jewish descent. Patients and carriers of Tay-Sachs disease can be identified by a simple blood test that measures beta-hexosaminidase A activity. Both parents must carry the mutated gene in order to have an affected child. In these instances, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal diagnosis is available if desired.
Is there any treatment?
Presently there is no treatment for Tay-Sachs disease. Anticonvulsant medicine may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube.
What is the prognosis?
Even with the best of care, children with Tay-Sachs disease usually die by age 4, from recurring infection.

Tardive Dyskinesia

What is Tardive Dyskinesia?

Tardive dyskinesia is a neurological syndrome caused by the long-term use of neuroleptic drugs. Neuroleptic drugs are generally prescribed for psychiatric disorders, as well as for some gastrointestinal and neurological disorders. Tardive dyskinesia is characterized by repetitive, involuntary, purposeless movements. Features of the disorder may include grimacing, tongue protrusion, lip smacking, puckering and pursing, and rapid eye blinking. Rapid movements of the arms, legs, and trunk may also occur. Involuntary movements of the fingers may appear as though the patient is playing an invisible guitar or piano.
Is there any treatment?
There is no standard treatment for tardive dyskinesia. Treatment is highly individualized. The first step is generally to stop or minimize the use of the neuroleptic drug. However, for patients with a severe underlying condition this may not be a feasible option. Replacing the neuroleptic drug with substitute drugs may help some patients. Other drugs such as benzodiazepines, adrenergic antagonists, and dopamine agonists may also be beneficial.
What is the prognosis?
Symptoms of tardive dyskinesia may remain long after discontinuation of neuroleptic drugs; however, with careful management, some symptoms may improve and/or disappear with time.
What research is being done?
The NINDS conducts and supports a broad range of research on movement disorders including tardive dyskinesia. The goals of this research are to improve understanding of these disorders and to discover ways to treat, prevent, and, ultimately, cure them.

Tarlov Cysts

What are Tarlov Cysts?

Tarlov cysts are fluid-filled sacs that most often affect nerve roots in the sacrum, the group of bones at the base of the spine. These cysts can compress nerve roots, causing lower back pain, sciatica (shock-like or burning pain in the lower back, buttocks, and down one leg to below the knee), urinary incontinence, sexual dysfunction, and some loss of feeling or control of movement in the leg and/or foot. Pressure on the nerves next to the cysts can also cause pain. Tarlov cysts may become symptomatic following shock, trauma, or exertion that causes the buildup of cerebrospinal fluid. Women are at much higher risk of developing these cysts than are men.
Is there any treatment?
Tarlov cysts may be drained to relieve pressure and pain, but relief is often only temporary and fluid build-up in the cysts will recur. Corticosteroid injections may also temporarily relieve pain. Other drugs may be prescribed to treat chronic pain and depression. Filling the cysts with fat has not been shown to work. Injecting the cysts with fibrin glue (a combination of naturally occurring substances based on the clotting factor in blood) may provide temporary relief of pain. Some scientists believe the herpes simplex virus, which thrives in an alkaline environment, can cause Tarlov cysts to become symptomatic; making the body less alkaline, through diet or supplements, may lesson symptoms. Microsurgical removal of the cyst may be be an opton in select individuals who do not respond to conservative treatments and who continue to experience pain or progressive neurological damage.
What is the prognosis?
Most Tarlov cysts do not cause pain, weakness, or nerve root compression. Acute and chronic pain may require changes in lifestyle. If left untreated, nerve root compression can cause permanent neurological damage.

Tabes Dorsalis

What is Tabes Dorsalis?

Tabes dorsalis is a slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The degenerating nerves are in the dorsal columns of the spinal cord (the portion closest to the back of the body) and carry information that help maintain a person's sense of position. Tabes dorsalis is the result of an untreated syphilis infection. Symptoms may not appear for some decades after the initial infection and include weakness, diminished reflexes, unsteady gait, progressive degeneration of the joints, loss of coordination, episodes of intense pain and disturbed sensation, personality changes, dementia, deafness, visual impairment, and impaired response to light. The disease is more frequent in males than in females. Onset is commonly during mid-life. The incidence of tabes dorsalis is rising, in part due to co-associated HIV infection.
Is there any treatment?
Penicillin, administered intravenously, is the treatment of choice. Associated pain can be treated with opiates, valproate, or carbamazepine. Patients may also require physical or rehabilitative therapy to deal with muscle wasting and weakness. Preventive treatment for those who come into sexual contact with an individual with tabes dorsalis is important.
What is the prognosis?
If left untreated, tabes dorsalis can lead to paralysis, dementia, and blindness. Existing nerve damage cannot be reversed.

Wilson's Disease

What is Wilson's Disease?
Wilson’s disease (WD) is a rare inherited disorder in which excessive amounts of copper accumulate in the body. The buildup of copper leads to damage in the kidneys, brain, and eyes. Although copper accumulation begins at birth, symptoms of the disorder appear later in life. The most characteristic symptom of WD is the Kayser-Fleisher ring – a rusty brown ring around the cornea of the eye that can best be viewed using an ophthalmologist’s slit lamp. The primary consequence for most of those with WD is liver disease, appearing in late childhood or early adolescence as acute hepatitis, liver failure, or progressive chronic liver disease in the form of chronic active hepatitis or cirrhosis of the liver. In others, the first symptoms occur later in adulthood and most commonly include slurred speech (dysarthria), difficulty swallowing (dysphagia), and drooling. Other symptoms may include tremor of the head, arms, or legs; impaired muscle tone, and sustained muscle contractions that produce abnormal postures, twisting, and repetitive movements (dystonia); and slowness of movements (bradykinesia). Individuals may also experience clumsiness (ataxia) and loss of fine motor skills. A third of those with WD will also experience psychiatric symptoms such as an abrupt personality change, bizarre and inappropriate behavior, depression accompanied by suicidal thoughts, neurosis, or psychosis. WD is diagnosed with tests that measure the amount of copper in the blood, urine, and liver.
Is there any treatment?
WD requires lifelong treatment, generally using drugs to remove excess copper from the body and to prevent it from re-accumulating. Zinc salt, which blocks the absorption of copper in the stomach and causes no serious side effects, is often considered the treatment of choice. Penicillamine and trientine increase urinary excretion of copper; however, both drugs can cause serious side effects. Tetrathiomolybdate is an investigational drug with a lower toxic profile, but it has not been approved by the Food and Drug Administration for the treatment of WD and its long-term safety and effectiveness aren’t known. A low-copper diet may also be recommended, which involves avoiding mushrooms, nuts, chocolate, dried fruit, liver, and shellfish. In rare cases where there is severe liver disease, a liver transplant may be needed. Symptomatic treatment for symptoms of muscle spasm, stiffness, and tremor may include anticholinergics, tizanidine, baclofen, levodopa, or clonazepam.
What is the prognosis?
Early onset of the disease is worse than late onset in terms of prognosis. If the disorder is detected early and treated appropriately, an individual with WD can usually enjoy normal health and a normal lifespan. If not treated, WD can cause severe brain damage, liver failure, and death. The disease requires lifelong treatment.
What research is being done?
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to WD in laboratories at the NIH, and support additional research through grants to major medical institutions across the country. The recent identification of the copper transporting gene ATP7B, which in its mutated form causes WD, should lead to the design of better therapies for this disorder

Williams Syndrome

What is Williams Syndrome?

Williams Syndrome (WS) is a rare genetic disorder characterized by mild to moderate mental retardation or learning difficulties, a distinctive facial appearance, and a unique personality that combines overfriendliness and high levels of empathy with anxiety. The most significant medical problem associated with WS is cardiovascular disease caused by narrowed arteries. WS is also associated with elevated blood calcium levels in infancy. A random genetic mutation (deletion of a small piece of chromosome 7), rather than inheritance, most often causes the disorder. However, individuals who have WS have a 50 percent chance of passing it on if they decide to have children. The characteristic facial features of WS include puffiness around the eyes, a short nose with a broad nasal tip, wide mouth, full cheeks, full lips, and a small chin. People with WS are also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine. Some individuals with WS have a star-like pattern in the iris of their eyes. Infants with WS are often irritable and colicky, with feeding problems that keep them from gaining weight. Chronic abdominal pain is common in adolescents and adults. By age 30, the majority of individuals with WS have diabetes or pre-diabetes and mild to moderate sensorineural hearing loss (a form of deafness due to disturbed function of the auditory nerve). For some people, hearing loss may begin as early as late childhood. WS also is associated with a characteristic “cognitive profile” of mental strengths and weaknesses composed of strengths in verbal short-term memory and language, combined with severe weakness in visuospatial construction (the skills used to copy patterns, draw, or write). Within language, the strongest skills are typically in concrete, practical vocabulary, which in many cases is in the low average to average range for the general population. Abstract or conceptual-relational vocabulary is much more limited. Most older children and adults with WS speak fluently and use good grammar. More than 50% of children with WS have attention deficit disorders (ADD or ADHD), and about 50% have specific phobias, such as a fear of loud noises. The majority of individuals with WS worry excessively.
Is there any treatment?
There is no cure for Williams syndrome, nor is there a standard course of treatment. Because WS is an uncommon and complex disorder, multidisciplinary clinics have been established at several centers in the United States . Treatments are based on an individual’s particular symptoms. People with WS require regular cardiovascular monitoring for potential medical problems, such as symptomatic narrowing of the blood vessels, high blood pressure, and heart failure
What is the prognosis?
The prognosis for individuals with WS varies. Some degree of mental retardation is found in most people with the disorder. Some adults are able to function independently, complete academic or vocational school, and live in supervised homes or on their own; most live with a caregiver. Parents can increase the likelihood that their child will be able to live semi-independently by teaching self-help skills early. Early intervention and individualized educational programs designed with the distinct cognitive and personality profiles of WS in mind also help individuals maximize their potential. Medical complications associated with the disorder may shorten the lifespans of some individuals with WS.
What research is being done?
The National Institutes of Health (NIH), and the National Institute of Neurological Disorders and Stroke (NINDS), have funded many of the research studies exploring the genetic and neurobiological origins of WS. In the early 1990s, researchers located and identified the genetic mutation responsible for the disorder: the deletion of a small section of chromosome 7 that contains approximately 25 genes. NINDS continues to support WS researchers including, for example, groups that are attempting to link specific genes with the corresponding facial, cognitive, personality, and neurological characteristics of WS.

Whipple's Disease

What is Whipple's Disease?

Whipple's disease is a multi-system infectious bacterial disease that interferes with the body's ability to metabolize fats. The disorder can affect any system in the body, including the central nervous system, but usually occurs in the gastrointestinal system. Gastrointestinal symptoms may include diarrhea, weight loss, fatigue, weakness, and abdominal bleeding and pain. Neurological symptoms may include abnormalities of eye and facial muscle movements, confusion, seizures, ataxia, memory loss, and vision impairment. Fever, cough, and joint soreness may also be present.
Is there any treatment?
The standard treatment for Whipple's disease is a prolonged course of antibiotics.
What is the prognosis?
Generally, antibiotic treatment to destroy the bacteria that caused the disease results in relief of symptoms. However, the disorder may be persistent despite sustained treatment with antibiotics. Relapses are frequent. With treatment, the disorder can be cured. Untreated, Whipple's disease is fatal.
What research is being done?
The NINDS supports research on disorders that affect the central nervous system such as Whipple's disease. The National Institute of Diabetes and Digestive and Kidney Diseases also supports research on disorders such as Whipple's disease. Much of this research is aimed at learning more about these disorders and finding ways to prevent, treat, and, ultimately, cure them.

Whiplash

What is Whiplash?

Whiplash-a soft tissue injury to the neck-is also called neck sprain or neck strain. It is characterized by a collection of symptoms that occur following damage to the neck, usually because of sudden extension and flexion. The disorder commonly occurs as the result of an automobile accident and may include injury to intervertebral joints, discs, and ligaments, cervical muscles, and nerve roots. Symptoms such as neck pain may be present directly after the injury or may be delayed for several days. In addition to neck pain, other symptoms may include neck stiffness, injuries to the muscles and ligaments (myofascial injuries), headache, dizziness, abnormal sensations such as burning or prickling (paresthesias), or shoulder or back pain. In addition, some people experience cognitive, somatic, or psychological conditions such as memory loss, concentration impairment, nervousness/irritability, sleep disturbances, fatigue, or depression.
Is there any treatment?
Treatment for individuals with whiplash may include pain medications, nonsteroidal anti-inflammatory drugs, antidepressants, muscle relaxants, and a cervical collar (usually worn for 2 to 3 weeks). Range of motion exercises, physical therapy, and cervical traction may also be prescribed. Supplemental heat application may relieve muscle tension.
What is the prognosis?
Generally, prognosis for individuals with whiplash is good. The neck and head pain clears within a few days or weeks. Most patients recover within 3 months after the injury, however, some may continue to have residual neck pain and headaches

Wallenberg's Syndrome

What is Wallenberg's Syndrome?

Wallenberg’s syndrome is a neurological condition caused by a stroke in the vertebral or posterior inferior cerebellar artery of the brain stem. Symptoms include difficulties with swallowing, hoarseness, dizziness, nausea and vomiting, rapid involuntary movements of the eyes (nystagmus), and problems with balance and gait coordination. Some individuals will experience a lack of pain and temperature sensation on only one side of the face, or a pattern of symptoms on opposite sides of the body – such as paralysis or numbness in the right side of the face, with weak or numb limbs on the left side. Uncontrollable hiccups may also occur, and some individuals will lose their sense of taste on one side of the tongue, while preserving taste sensations on the other side. Some people with Wallenberg’s syndrome report that the world seems to be tilted in an unsettling way, which makes it difficult to keep their balance when they walk.
Is there any treatment?
Treatment for Wallenberg's syndrome is symptomatic. A feeding tube may be necessary if swallowing is very difficult. Speech/swallowing therapy may be beneficial. In some cases, medication may be used to reduce or eliminate pain. Some doctors report that the anti-epileptic drug gabapentin appears to be an effective medication for individuals with chronic pain.
What is the prognosis?
The outlook for someone with Wallenberg’s syndrome depends upon the size and location of the area of the brain stem damaged by the stroke. Some individuals may see a decrease in their symptoms within weeks or months. Others may be left with significant neurological disabilities for years after the initial symptoms appeared.

Vasculitis including Temporal Arteritis

What is Vasculitis including Temporal Arteritis?
Vasculitis is an inflammation of the vascular system, which includes the veins, arteries, and capillaries. Dysfunction may occur due to the inflammation itself or over time as the blood vessel walls swell, harden, thicken, and develop scar tissue. This narrows the passage through which blood can flow. As the condition progresses, it can slow or completely stop the normal flow of blood. Vasculitis can cause problems in any organ system, including the central (CNS) and peripheral (PNS) nervous systems. A vasculitis syndrome may begin suddenly or develop over time. Symptoms include headaches, fever, malaise (feeling out-of-sorts), rapid weight loss, confusion or forgetfulness, aches and pains in the joints and muscles, pain while chewing or swallowing, paralysis or numbness in the arms or legs, double vision, blurred vision, or blindness.
Although these disorders are rare, there are many of them. Some of the better understood syndromes are temporal arteritis (also called giant cell arteritis or cranial arteritis), primary angiitis of the CNS (granulomatous angiitis), Takayasu's disease, and periarteritis nodosa. The diagnosis of a specific CNS or PNS vasculitis disorder will depend upon the number of blood vessels involved, their size, and their location in the CNS or PNS.
Is there any treatment?
The standard treatment for these disorders is varying doses of steroids such as prednisone and methylprednisolone, along with immunosuppressive drugs such as cyclophosphamide and low-dose methotrexate. Individuals must be carefully monitored. Long-term use of steroids can cause harmful side effects such as collapsing vertebrae, muscle pain, diabetes, and cataracts. The use of immunosuppressive drugs makes people more susceptible to infectious diseases such as influenza and pneumonia.
What is the prognosis?
The prognosis is dependent upon the specific vasculitis syndrome and whether treatment has been begun early enough. With early treatment, the course of temporal arteritis, for example, is usually limited to one to two years and is rarely fatal. On the other hand, untreated periarteritis nodosa is often fatal, ending in heart failure, kidney failure, or the failure of other vital organs. Most people will respond well to steroids and immunosuppressive drugs.

Tuberous Sclerosis

What is Tuberous Sclerosis?
Tuberous sclerosis (TSC) is a rare genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It commonly affects the central nervous system. In addition to the benign tumors that frequently occur in TSC, other common symptoms include seizures, mental retardation, behavior problems, and skin abnormalities. TSC may be present at birth, but signs of the disorder can be subtle and full symptoms may take some time to develop. Three types of brain tumors are associated with TSC: cortical tubers, which generally form on the surface of the brain; subependymal nodules, which form in the walls of the ventricles (the fluid-filled cavities of the brain); and giant-cell astrocytomas, a type of tumor that can block the flow of fluids within the brain.
Is there any treatment?
There is no cure for TSC, although treatment is available for a number of the symptoms. Antiepileptic drugs may be used to control seizures and medications may be prescribed for behavior problems. Intervention programs, including special schooling and occupational therapy, may benefit individuals with special needs and developmental issues. Surgery, including dermabrasion and laser treatment, may be useful for treatment of skin lesions. Because TSC is a lifelong condition, individuals need to be regularly monitored by a doctor. Due to the many varied symptoms of TSC, care by a clinician experienced with the disorder is recommended.
What is the prognosis?
The prognosis for individuals with TSC depends on the severity of symptoms. Individuals with mild symptoms generally do well and live long productive lives, while individuals with the more severe form may have serious disabilities. In rare cases, seizures, infections, or tumors in vital organs such as the kidneys and brain can lead to severe complications and even death. However, with appropriate medical care, most individuals with the disorder can look forward to normal life expectancy.

Tropical Spastic Paraparesis

What is Tropical Spastic Paraparesis?
For several decades the term “tropical spastic paraparesis” (TSP) has been used to describe a chronic and progressive disease of the nervous system that affects adults living in equatorial areas of the world and causes progressive weakness, stiff muscles, muscle spasms, sensory disturbance, and sphincter dysfunction. The cause of TSP was obscure until the mid-1980s, when an important association was established between the human retrovirus — human T-cell lymphotrophic virus type 1 (also known as HTLV-1) — and TSP. TSP is now called HTLV-1 associated myelopathy/ tropical spastic paraparesis or HAM/TSP. The HTLV-1 retrovirus is thought to cause at least 80 percent of the cases of HAM/TSP by impairing the immune system. In addition to neurological symptoms of weakness and muscle stiffness or spasms, in rare cases individuals with HAM/TSP also exhibit uveitis (inflammation of the uveal tract of the eye), arthritis (inflammation of one or more joints), pulmonary lymphocytic alveolitis (inflammation of the lung), polymyositis (an inflammatory muscle disease), keratoconjunctivitis sicca (persistent dryness of the cornea and conjunctiva), and infectious dermatitis (inflammation of the skin). The other serious complication of HTLV-1 infection is the development of adult T-cell leukemia or lymphoma. Nervous system and blood-related complications occur only in a very small proportion of infected individuals, while most remain largely without symptoms throughout their lives.
The HTLV-1 virus is transmitted person-to-person via infected cells: breast-feeding by mothers who are seropositive (in other words, have high levels of virus antibodies in their blood), sharing infected needles duing intravenous drug use, or having sexual relations with a seropositive partner. Less than 2 percent of HTLV-1 seropositive carriers will become HAM/TSP patients.
Is there any treatment?
There is no established treatment program for HAM/TSP. Corticosteroids may relieve some symptoms, but aren’t likely to change the course of the disorder. Clinical studies suggest that interferon alpha provides benefits over short periods and some aspects of disease activity may be improved favorably using interferon beta. Stiff and spastic muscles may be treated with lioresal or tizanidine. Urinary dysfunction may be treated with oxybutynin.
What is the prognosis?
HAM/TSP is a progressive disease, but it is rarely fatal. Most individuals live for several decades after the diagnosis. Their prognosis improves if they take steps to prevent urinary tract infection and skin sores, and if they participate in physical and occupational therapy programs

Trigeminal Neuralgia

What is Trigeminal Neuralgia?
Trigeminal neuralgia (TN), also called tic douloureux, is a chronic pain condition that causes extreme, sporadic, sudden burning or shock-like face pain that lasts anywhere from a few seconds to as long as 2 minutes per episode. The intensity of pain can be physically and mentally incapacitating. TN pain is typically felt on one side of the jaw or cheek. Episodes can last for days, weeks, or months at a time and then disappear for months or years. In the days before an episode begins, some patients may experience a tingling or numbing sensation or a somewhat constant and aching pain. The attacks often worsen over time, with fewer and shorter pain-free periods before they recur. The intense flashes of pain can be triggered by vibration or contact with the cheek (such as when shaving, washing the face, or applying makeup), brushing teeth, eating, drinking, talking, or being exposed to the wind. TN occurs most often in people over age 50, but it can occur at any age, and is more common in women than in men. There is some evidence that the disorder runs in families, perhaps because of an inherited pattern of blood vessel formation. Although sometimes debilitating, the disorder is not life-threatening.
The presumed cause of TN is a blood vessel pressing on the trigeminal nerve in the head as it exits the brainstem. TN may be part of the normal aging process but in some cases it is the associated with another disorder, such as multiple sclerosis or other disorders characterized by damage to the myelin sheath that covers certain nerves.
Is there any treatment?
Because there are a large number of conditions that can cause facial pain, TN can be difficult to diagnose. But finding the cause of the pain is important as the treatments for different types of pain may differ. Treatment options include medicines such as anticonvulsants and tricyclic antidepressants, surgery, and complementary approaches. Typical analgesics and opioids are not usually helpful in treating the sharp, recurring pain caused by TN. If medication fails to relieve pain or produces intolerable side effects such as excess fatigue, surgical treatment may be recommended. Several neurosurgical procedures are available. Some are done on an outpatient basis, while others are more complex and require hospitalization. Some patients choose to manage TN using complementary techniques, usually in combination with drug treatment. These techniques include acupuncture, biofeedback, vitamin therapy, nutritional therapy, and electrical stimulation of the nerves.
What is the prognosis?
The disorder is characterized by recurrences and remissions, and successive recurrences may incapacitate the patient. Due to the intensity of the pain, even the fear of an impending attack may prevent activity. Trigeminal neuralgia is not fatal.

Tremor

What is Tremor?
Tremor is an unintentional, somewhat rhythmic, muscle movement involving to-and-fro movements of one or more parts of the body. Most tremors occur in the hands, although they can also affect the arms, head, face, vocal cords, trunk, and legs. Sometimes tremor is a symptom of another neurological disorder, but the most common form occurs in otherwise healthy people. Some forms of tremor are inherited and run in families, while others have no known cause. Excessive alcohol consumption or alcohol withdrawal can kill certain nerve cells, resulting in tremor, especially in the hand. Other causes include an overactive thyroid and the use of certain drugs. Tremor may occur at any age but is most common in middle-aged and older persons.
Essential tremor (sometimes called benign essential tremor) is the most common of the more than 20 types of tremor.The hands are most often affected but the head, voice, tongue, legs, and trunk may also be involved. Head tremor may be seen as a "yes-yes" or "no-no" motion. Onset is most common after age 40, although symptoms can appear at any age. Parkinsonian tremor is caused by damage to structures within the brain that control movement. The tremor is classically seen as a "pill-rolling" action of the hands but may also affect the chin, lips, legs, and trunk. Dystonic tremor occurs in individuals of all ages who are affected by dystonia, a movement disorder in which sustained involuntary muscle contractions cause twisting motions or painful postures or positions.
Is there any treatment?
There is no cure for most tremors. The appropriate treatment depends on accurate diagnosis of the cause. Drug treatment for parkinsonian tremor involves levodopa or dopamine-like drugs such as pergolide mesylate, bromocriptine mesylate, and ropinirole. Essential tremor may be treated with propranolol or other beta blockers (such as nadolol) and primidone, an anticonvulsant drug. Dystonic tremor may respond to clonazepam, anticholinergic drugs, and intramuscular injections of botulinum toxin. Eliminating tremor "triggers" such as caffeine and other stimulants from the diet is often recommended. Physical therapy may help to reduce tremor and improve coordination and muscle control for some patients. Surgical intervention, such as thalamotomy and deep brain stimulation, are usually performed only when the tremor is severe and does not respond to drugs.
What is the prognosis?
Although tremor is not life-threatening, it can be embarrassing to some people and make it harder to perform daily tasks.

Transverse Myelitis

What is Transverse Myelitis?
Transverse myelitis is a neurological disorder caused by inflammation across both sides of one level, or segment, of the spinal cord. The segment of the spinal cord at which the damage occurs determines which parts of the body are affected. Damage at one segment will affect function at that segment and segments below it. In people with transverse myelitis, inflammation usually occurs at the thoracic (upper back) level, causing problems with leg movement and bowel and bladder control, which require signals from the lower segments of the spinal cord. What usually begins as a sudden onset of lower back pain, muscle weakness, or abnormal sensations in the toes and feet can rapidly progress to more severe symptoms, including paralysis, urinary retention, and loss of bowel control.
Is there any treatment?
No effective cure currently exists for people with transverse myelitis. Physicians often prescribe corticosteroid therapy during the first few weeks of illness to decrease inflammation. Following initial therapy, the most critical part of the treatment for this disorder consists of keeping the patient’s body functioning while hoping for either complete or partial spontaneous recovery of the nervous system. If an individual begins to recover limb control, physical therapy begins to help improve muscle strength, coordination, and range of motion.
What is the prognosis?
Recovery from transverse myelitis usually begins within 2 to 12 weeks of the onset of symptoms and may continue for up to 2 years. However, if there is no improvement within the first 3 to 6 months, significant recovery is unlikely. About one-third of people affected with transverse myelitis experience good or full recovery from their symptoms. Another one-third show only fair recovery and are left with significant deficits. The remaining one-third show no recovery at all, with marked dependence on others for basic functions of daily living.
What research is being done?
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to transverse myelitis in its laboratories at the National Institutes of Health (NIH), and also supports additional transverse myelitis research through grants to major medical institutions across the country. Some studies focus on strategies to repair the spinal cord, including approaches using cell transplantation. The NINDS also funds researchers who are using animal models of spinal cord injury to study strategies for replacement or regeneration of spinal cord nerve cells. The knowledge gained from such research should lead to a greater knowledge of the mechanisms responsible for transverse myelitis and may ultimately provide a means to prevent and treat this disorder.
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Tourette Syndrome

What is Tourette Syndrome?
Tourette syndrome (TS) is a neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. The first symptoms of TS are almost always noticed in childhood. Some of the more common tics include eye blinking and other vision irregularities, facial grimacing, shoulder shrugging, and head or shoulder jerking. Perhaps the most dramatic and disabling tics are those that result in self-harm such as punching oneself in the face, or vocal tics including coprolalia (uttering swear words) or echolalia (repeating the words or phrases of others). Many with TS experience additional neurobehavioral problems including inattention, hyperactivity and impulsivity, and obsessive-compulsive symptoms such as intrusive thoughts/worries and repetitive behaviors.
Is there any treatment?
Because tic symptoms do not often cause impairment, the majority of people with TS require no medication for tic suppression. However, effective medications are available for those whose symptoms interfere with functioning. There is no one medication that is helpful to all people with TS, nor does any medication completely eliminate symptoms. Effective medications are also available to treat some of the associated neurobehavioral disorders that can occur in patients with TS.
What is the prognosis?
Although TS can be a chronic condition with symptoms lasting a lifetime, most people with the condition experience their worst symptoms in their early teens, with improvement occurring in the late teens and continuing into adulthood. As a result, some individuals may actually become symptom free or no longer need medication for tic suppression.
What research is being done?
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Knowledge about TS comes from studies across a number of medical and scientific disciplines, including genetics, neuroimaging, neuropathology, clinical trials (medication and non-medication), epidemiology, neurophysiology, neuroimmunology, and descriptive/diagnostic clinical science. Findings from these studies will provide clues for more effective therapies.

Todd's Paralysis

What is Todd's Paralysis?

Todd's paralysis is a neurological condition characterized by a brief period of transient (temporary) paralysis following a seizure. The paralysis - which may be partial or complete - generally occurs on one side of the body and usually subsides completely within 48 hours. Todd's paralysis may also affect speech or vision. The cause is not known. Examination of an individual who is experiencing or who has just experienced Todd's paralysis may help physicians identify the origin of the seizure. It is important to distinguish the condition from a stroke, which requires different treatment.
Is there any treatment?
Treatment of Todd's paralysis is symptomatic and supportive because the paralysis disappears quickly.
What is the prognosis?
An occurrence of Todd's paralysis indicates that a seizure has occurred. The prognosis for the patient depends upon the effects of the seizure, not the occurrence of the paralysis.

Transient Ischemic Attack

What is Transient Ischemic Attack?

A transient ischemic attack (TIA) is a transient stroke that lasts only a few minutes. It occurs when the blood supply to part of the brain is briefly interrupted. TIA symptoms, which usually occur suddenly, are similar to those of stroke but do not last as long. Most symptoms of a TIA disappear within an hour, although they may persist for up to 24 hours. Symptoms can include: numbness or weakness in the face, arm, or leg, especially on one side of the body; confusion or difficulty in talking or understanding speech; trouble seeing in one or both eyes; and difficulty with walking, dizziness, or loss of balance and coordination.
Is there any treatment?
Because there is no way to tell whether symptoms are from a TIA or an acute stroke, patients should assume that all stroke-like symptoms signal an emergency and should not wait to see if they go away. A prompt evaluation (within 60 minutes) is necessary to identify the cause of the TIA and determine appropriate therapy. Depending on a patient's medical history and the results of a medical examination, the doctor may recommend drug therapy or surgery to reduce the risk of stroke in people who have had a TIA. The use of antiplatelet agents, particularly aspirin, is a standard treatment for patients at risk for stroke. People with atrial fibrillation (irregular beating of the heart) may be prescribed anticoagulants.
What is the prognosis?
TIAs are often warning signs that a person is at risk for a more serious and debilitating stroke. About one-third of those who have a TIA will have an acute stroke some time in the future. Many strokes can be prevented by heeding the warning signs of TIAs and treating underlying risk factors. The most important treatable factors linked to TIAs and stroke are high blood pressure, cigarette smoking, heart disease, carotid artery disease, diabetes, and heavy use of alcohol. Medical help is available to reduce and eliminate these factors. Lifestyle changes such as eating a balanced diet, maintaining healthy weight, exercising, and enrolling in smoking and alcohol cessation programs can also reduce these factors.

Thyrotoxic Myopathy

What is Thyrotoxic Myopathy?

Thyrotoxic myopathy is a neuromuscular disorder that may accompany hyperthyroidism (Graves' disease, caused by overproduction of the thyroid hormone thyroxine). Symptoms may include muscle weakness, wasting of the pelvic girdle and shoulder muscles, fatigue, and heat intolerance. Muscle breakdown may occur in acute cases. Physical acts such as climbing stairs may be difficult. Patients may develop muscle damage to the eyes and eyelids, which may affect mobility of the eye muscles, and temporary, but severe, attacks of muscle weakness known as periodic paralysis.
Is there any treatment?
Treatment is based on treatment for hyperthyroidism and may include prescription of iodine and other drugs, beta-blockers, and surgery. Myopathy may improve by restoring normal thyroid function. Complete or partial removal of the thyroid may be required in severe cases.
What is the prognosis?
With treatment, muscle weakness may improve or be reversed.

Thoracic Outlet Syndrome

What is Thoracic Outlet Syndrome?

Thoracic outlet syndrome (TOS) consists of a group of distinct disorders that affect the nerves in the brachial plexus (nerves that pass into the arms from the neck) and various nerves and blood vessels between the base of the neck and axilla (armpit). For the most part, these disorders have very little in common except the site of occurrence. The disorders are complex, somewhat confusing, and poorly defined, each with various signs and symptoms of the upper limb.
True neurologic TOS is the only type with a clear definition that most scientists agree upon.The disorder is rare and is caused by congenital anomalies (unusual anatomic features present at birth). It generally occurs in middle-aged women and almost always on one side of the body. Symptoms include weakness and wasting of hand muscles, and numbness in the hand.
Disputed TOS, also called common or non-specific TOS, is a highly controversial disorder. Some doctors do not believe it exists while others say it is very common. Because of this controversy, the disorder is referred to as "disputed TOS." Many scientists believe disputed TOS is caused by injury to the nerves in the brachial plexus. The most prominent symptom of the disorder is pain. Other symptoms include weakness and fatigue.
Arterial TOS occurs on one side of the body. It affects patients of both genders and at any age but often occurs in young people. Like true neurologic TOS, arterial TOS is rare and is caused by a congenital anomaly. Symptoms can include sensitivity to cold in the hands and fingers, numbness or pain in the fingers, and finger ulcers (sores) or severe limb ischemia (inadequate blood circulation).
Venous TOS is also a rare disorder that affects men and women equally. The exact cause of this type of TOS is unknown. It often develops suddenly, frequently following unusual, prolonged limb exertion.
Traumatic TOS may be caused by traumatic or repetitive activities such as a motor vehicle accident or hyperextension injury (for example, after a person overextends an arm during exercise or while reaching for an object). Pain is the most common symptom of this TOS, and often occurs with tenderness. Paresthesias (an abnormal burning or prickling sensation generally felt in the hands, arms, legs, or feet), sensory loss, and weakness also occur. Certain body postures may exacerbate symptoms of the disorder.
Is there any treatment?
Treatment for individuals with TOS varies depending on the type. True neurologic TOS is generally effectively treated with surgery. Most other forms need only symptomatic treatment. Common or disputed TOS requires conservative treatment which may include drugs such as analgesics, and physical therapy to increase range of motion of the neck and shoulders, strengthen muscles, and induce better posture. Some cases of disputed TOS may require surgery (although, like the diagnosis, surgery is controversial). Heat, analgesics, and shoulder exercises have been used with limited success in individuals with traumatic TOS. Surgery may be needed in some cases. Vascular TOS often requires surgery.
What is the prognosis?
The prognosis for individuals with TOS varies according to the type. For the majority of individuals who receive treatment the prognosis for recovery is good.

Spina Bifida

What is Spina Bifida?

Spina bifida (SB) is a neural tube defect (a disorder involving incomplete development of the brain, spinal cord, and/or their protective coverings) caused by the failure of the fetus's spine to close properly during the first month of pregnancy. Infants born with SB sometimes have an open lesion on their spine where significant damage to the nerves and spinal cord has occurred. Although the spinal opening can be surgically repaired shortly after birth, the nerve damage is permanent, resulting in varying degrees of paralysis of the lower limbs. Even when there is no lesion present there may be improperly formed or missing vertebrae and accompanying nerve damage. In addition to physical and mobility difficulties, most individuals have some form of learning disability. The three most common types of SB are: myelomeningocele, the severest form, in which the spinal cord and its protective covering (the meninges) protrude from an opening in the spine; meningocele in which the spinal cord develops normally but the meninges protrude from a spinal opening; and occulta, the mildest form, in which one or more vertebrae are malformed and covered by a layer of skin. SB may also cause bowel and bladder complications, and many children with SB have hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain).
Is there any treatment?
There is no cure for SB because the nerve tissue cannot be replaced or repaired. Treatment for the variety of effects of SB may include surgery, medication, and physiotherapy. Many individuals with SB will need assistive devices such as braces, crutches, or wheelchairs. Ongoing therapy, medical care, and/or surgical treatments may be necessary to prevent and manage complications throughout the individual's life. Surgery to close the newborn's spinal opening is generally performed within 24 hours after birth to minimize the risk of infection and to preserve existing function in the spinal cord.
What is the prognosis?
The prognosis for individuals with SB depends on the number and severity of abnormalities. Prognosis is poorest for those with complete paralysis, hydrocephalus, and other congenital defects. With proper care, most children with SB live well into adulthood.

Spinal Cord Infarction

What is Spinal Cord Infarction?

Spinal cord infarction is a stroke either within the spinal cord or the arteries that supply it. It is caused by arteriosclerosis or a thickening or closing of the major arteries to the spinal cord. Frequently spinal cord infarction is caused by a specific form of arteriosclerosis called atheromatosis, in which a deposit or accumulation of lipid-containing matter forms within the arteries. Symptoms, which generally appear within minutes or a few hours of the infarction, may include intermittent sharp or burning back pain, aching pain down through the legs, weakness in the legs, paralysis, loss of deep tendon reflexes, loss of pain and temperature sensation, and incontinence.
Is there any treatment?
Treatment is symptomatic. Physical and occupational therapy may help individuals recover from weakness or paralysis. A catheter may be necessary for patients with urinary incontinence.
What is the prognosis?
Recovery depends upon how quickly treatment is received and how severely the body is compromised. Paralysis may persist for many weeks or be permanent. Most individuals have a good chance of recovery.

Striatonigral Degeneration

What is Striatonigral Degeneration?

Striatonigral degeneration is a neurological disorder caused by a disruption in the connection between two areas of the brain-the striatum and the substantia nigra. These two areas work together to enable balance and movement. Striatonigral degeneration is a type of multiple system atrophy (MSA). Symptoms of the disorder resemble some of those seen in Parkinson's disease, including rigidity, instability, impaired speech, and slow movements.
Is there any treatment?
There is no cure for striatonigral degeneration, and treatments for the disorder have variable success. Treatments used for Parkinson's disease are recommended. However, unlike Parkinson's disease, striatonigral degeneration is not responsive to levodopa. Dopamine and anticholinergics provide some benefit. Generally, treatment is reevaluated as the disorder progresses.
What is the prognosis?
Striatonigral degeneration progresses slowly. Some patients have normal life expectancy.

Stroke

What is Stroke?

A stroke occurs when the blood supply to part of the brain is suddenly interrupted or when a blood vessel in the brain bursts, spilling blood into the spaces surrounding brain cells. Brain cells die when they no longer receive oxygen and nutrients from the blood or there is sudden bleeding into or around the brain. The symptoms of a stroke include sudden numbness or weakness, especially on one side of the body; sudden confusion or trouble speaking or understanding speech; sudden trouble seeing in one or both eyes; sudden trouble with walking, dizziness, or loss of balance or coordination; or sudden severe headache with no known cause. There are two forms of stroke: ischemic - blockage of a blood vessel supplying the brain, and hemorrhagic - bleeding into or around the brain.
Is there any treatment?
Generally there are three treatment stages for stroke: prevention, therapy immediately after the stroke, and post-stroke rehabilitation. Therapies to prevent a first or recurrent stroke are based on treating an individual's underlying risk factors for stroke, such as hypertension, atrial fibrillation, and diabetes. Acute stroke therapies try to stop a stroke while it is happening by quickly dissolving the blood clot causing an ischemic stroke or by stopping the bleeding of a hemorrhagic stroke. Post-stroke rehabilitation helps individuals overcome disabilities that result from stroke damage. Medication or drug therapy is the most common treatment for stroke. The most popular classes of drugs used to prevent or treat stroke are antithrombotics (antiplatelet agents and anticoagulants) and thrombolytics.
What is the prognosis?
Although stroke is a disease of the brain, it can affect the entire body. A common disability that results from stroke is complete paralysis on one side of the body, called hemiplegia. A related disability that is not as debilitating as paralysis is one-sided weakness or hemiparesis. Stroke may cause problems with thinking, awareness, attention, learning, judgment, and memory. Stroke survivors often have problems understanding or forming speech. A stroke can lead to emotional problems. Stroke patients may have difficulty controlling their emotions or may express inappropriate emotions. Many stroke patients experience depression. Stroke survivors may also have numbness or strange sensations. The pain is often worse in the hands and feet and is made worse by movement and temperature changes, especially cold temperatures.
Recurrent stroke is frequent; about 25 percent of people who recover from their first stroke will have another stroke within 5 years.

The Acute Stroke

The Brain Attack Coalition's recommendations for a Primary Stroke Center address the following 11 major aspects of acute stroke care:
Acute Stroke Teams
The Acute Stroke Team should include a physician with experience in diagnosing and treating cerebrovascular disease, and one other healthcare provider as a minimum. Hospital-based stroke teams should be available around-the-clock, seven days a week in order to evaluate within 15 minutes any patient who may have suffered a stroke.
Written Care Protocols
Hospitals should have written procedures to streamline and accelerate the diagnosis and treatment of stroke patients. The availability of such protocols is a key step in reducing time to treatment as well as complications from treatment.
Emergency Medical Services
Emergency medical services (EMS) have a vital role in the rapid transportation and survival of stroke patients. Improved coordination between hospitals and EMS is a cornerstone of a Primary Stroke Center. One element of a well integrated system would be effective communication between EMS personnel and the stroke center during rapid transport of a patient experiencing a stroke.
Emergency Department
The emergency department staff should have training in diagnosing and treating stroke and have good lines of communication with both EMS and the acute stroke team.
Stroke Unit
A Primary Stroke Center wishing to provide care beyond the initial life-threatening period should have access to a Stroke Unit where patients can receive specialized monitoring and care. Some hospitals may choose to stabilize patients and transfer them to another facility.
Neurosurgical Services
Primary Stroke Centers should be able to provide neurosurgical services to stroke patients within two hours of when the services are deemed necessary.
Support of Medical Organization
The facility and its staff, including administration, should be committed to the Primary Stroke Center. This comprehensive commitment ensures the delivery of high quality and efficient care to acute stroke patients.
Neuroimaging
The ability to perform brain imaging studies on acute stroke patients is vital for physicians to make a fast, accurate diagnosis of stroke patients. Brain imaging studies include CT scans. A Primary Stroke Center must be capable of performing an imaging study within 25 minutes of the physician's order. The image should be evaluated by a physician within 20 minutes of completion.
Laboratory Services
Standard laboratory services should be available around-the-clock, seven days per week at a Primary Stroke Center. Standard laboratory services include rapidly performing and reporting blood counts, blood chemistries and coagulation studies. A Primary Stroke Center also should be able to rapidly obtain ECG and chest x-rays.
Outcomes/Quality Improvement
Primary Stroke Centers should have a database or registry for tracking the number and type of stroke patients seen, their treatments, timeline for treatments and some measurement of patient outcome.
Educational Programs
The professional staff of a Primary Stroke Center should receive at least eight hours per year of continuing medical education credit. In addition to professional education, the Primary Stroke Center should plan and implement at least two annual programs to educate the public about stroke prevention, diagnosis and availability for emergency treatment.

Stroke

Stroke

Each year in the United States, there are more than 700,000 strokes. Stroke is the third leading cause of death in the country. And stroke causes more serious long-term disabilities than any other disease. Nearly three-quarters of all strokes occur in people over the age of 65 and the risk of having a stroke more than doubles each decade after the age of 55.
For African Americans, stroke is more common and more deadly - even in young and middle-aged adults - than for any ethnic or other racial group in the United States.
Learning about stroke can help you act in time to save a co-worker, friend, or relative. And making changes in your lifestyle can help you prevent stroke.
Why is Stroke an Emergency?
New treatments are available that greatly reduce the damage caused by a stroke. But you need to arrive at the hospital within 60 minutes after symptoms start to prevent disability. Knowing stroke symptoms, calling 911 immediately, and getting to a hospital are critical.
What is a stroke?
A stroke is serious - just like a heart attack. A stroke is sometimes called a "brain attack." Most often, stroke occurs when blood flow to the brain stops because it is blocked by a clot. The brain cells in the immediate area begin to die because they stop getting the oxygen and nutrients they need to function.
What causes a stroke?
There are two kinds of stroke. The most common kind of stroke, called ischemic stroke, is caused by a blood clot that blocks or plugs a blood vessel in the brain. The other kind of stroke, called hemorrhagic stroke, is caused by a blood vessel that breaks and bleeds into the brain.
What disabilities can result from a stroke?
Stroke damage in the brain can affect the entire body - resulting in mild to severe disabilities. These include paralysis, problems with thinking, problems with speaking, and emotional problems.
Know the Signs. Act in Time
Stroke Symptoms
Sudden numbness or weakness of the face, arm, or leg (especially on one side of the body)
Sudden confusion, trouble speaking or understanding speech
Sudden trouble seeing in one or both eyes
Sudden trouble walking, dizziness, loss of balance or coordination
Sudden severe headache with no known cause
What should you do?
Because stroke injures the brain, you may not realize that you are having a stroke. The people around you might not know it either. Your family, friends, or neighbors may think you are confused. You may not be able to call 911 on your own. That's why everyone should know the signs of stroke - and know how to act fast.
Don't wait for the symptoms to improve or worsen. If you believe you are having a stroke - or someone you know is having a stroke - call 911 immediately. Making the decision to call for medical help can make the difference in avoiding a lifelong disability.

What can you do to prevent a stroke?
While family history of stroke plays a role in your risk, there are many risk factors you can control.
If you have high blood pressure, work with your doctor to get it under control. Many people do not realize they have high blood pressure, which usually produces no symptoms but is a major risk factor for heart disease and stroke. Managing your high blood pressure is the most important thing you can do to avoid stroke.
If you smoke, quit.
If you have diabetes, learn how to manage it. As with high blood pressure, diabetes usually causes no symptoms but it increases the chance of stroke.
If you are overweight, start maintaining a healthy diet and exercising regularly.
WHY IS STROKE TREATMENT URGENT?
Every minute counts. The longer blood flow is cut off to the brain, the greater the damage. The most common kind of stroke, ischemic stroke, can be treated with a drug that dissolves clots blocking the blood flow. The window of opportunity to start treating stroke patients is three hours. But a person needs to be at the hospital within 60 minutes of having a stroke to be evaluated and receive treatment.

A study in the March 6, 2004, issue of The Lancet ¹ confirms the benefits of getting stroke patients to the hospital quickly for rapid thrombolytic treatment. The study provides the results of an extensive analysis of more than 2,700 stroke patients in six controlled clinical trials who were randomized for treatment with thrombolytic t-PA or a placebo.
While physicians have known since a breakthrough study in 1995 that early treatment with thrombolytics can improve a stroke patient's chance of a full recovery, only an estimated 2 to 5 percent of all eligible acute stroke patients in the U.S. are being treated with thrombolytics.
Stroke patients who were treated within 90 minutes of the onset of their symptoms showed the most improvement. The study suggests that t-PA given up to 4 hours after the onset of symptoms may be of benefit, but the authors caution that as time goes on there is a diminishing effect of treatment, and there is estimated to be almost no benefit when treatment is at 6 hours.
"Once again we learn that time is brain," said John R. Marler, M.D., one of the study authors and associate director for clinical trials at the National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH). "Although rapid stroke treatment presents a great challenge to physicians and may require substantial change in many health care systems, we now have stronger evidence that rapid early treatment offers the best chance of recovery for acute ischemic stroke patients."
Thrombolytics work as "clot busters," breaking up the clot that appears in the brain during an ischemic stroke, and allowing blood to flow freely again in the occluded or blocked artery. Patients must have computerized tomography (CT) scans of the brain taken before treatment begins to confirm that the stroke is caused by a clot. Seventy-five percent of patients who were treated within 60 minutes of stroke onset had the best chance of having a complete or partial reopening of the occluded artery.
Another significant finding reported by the authors is that severe stroke patients tend to present to the hospital earlier than patients with milder strokes, and those who were treated had much better recoveries than patients who were given a placebo. This means that the greatest effect of early treatment was seen in the group with the most to gain in terms of reducing long-term disability.
"This study confirms that door-to-needle time is just as critical in stroke as it is in heart attack. We need to work on breaking down the current barriers to rapid stroke treatment," said Story C. Landis, Ph.D., NINDS director.
The pooled data from the trials - two of which were sponsored by pharmaceutical companies and one that was by the NIH - represent the work of 16 teams of researchers and several statisticians around the world. "This scientific work is a good example of a cooperative effort between the Federal Government and the pharmaceutical industry," said NIH Director Elias A. Zerhouni, M.D. "By sharing these important data, the scientists have advanced our understanding of stroke treatment, which we hope will lead to significant improvements in treating this major disease."
In 1995, the NINDS t-PA Study Group published the results of two randomized clinical trials with more than 600 patients that showed a clear benefit of t-PA in stroke patients treated within 3 hours of onset and a diminishing effect for patients treated later than that. [The U.S. Food and Drug Administration (FDA) approved t-PA as a treatment for acute stroke in June of 1996, with the restriction that treatment begin within 3 hours of the stroke onset.]
Two other groups have conducted large randomized trials of t-PA for stroke, using longer windows of treatment. The European Cooperative Acute Stroke Study (ECASS) conducted two trials using a 6-hour window and the Alteplase ThromboLysis for Acute Noninterventional Therapy in Ischemic Stroke (ATLANTIS) investigators conducted two trials with treatment windows of 5 and 6 hours each. The investigators from the three studies collaborated to test the hypothesis that pooling their patient data would show the importance of time to treatment, and their results appear in The Lancet .
To measure favorable outcome at 3 months, investigators used various neurological scales to measure post-stroke disability. They also looked at the occurrence of hemorrhage, the primary risk of t-PA use. The final analysis included 2,775 patients treated at 300 hospitals from 18 countries. The median age was 68 years and the median time of "onset to treatment" was 243 minutes. Substantial intracerebral hemorrhage occurred in 5.9% of the treated patients as compared to 1.1% of placebo patients.
Although the data in The Lancet paper suggest that the beneficial effect of t-PA may extend beyond 3 hours (from 181 to 270 minutes), the authors caution that large prospective randomized trials would be required to confirm this finding and that this does not justify any delays in treatment. The ATLANTIS trial enrolled 79% of patients in the 4-5 hour window and failed to demonstrate efficacy.
"The most appropriate interval for beginning thrombolytic treatment remains to be clarified," the authors write in The Lancet ; however they urge those in the health care system, from paramedics to physicians, to set a target of 1 hour after arrival in the emergency room to begin intravenous thrombolytic treatment for patients with acute ischemic stroke.
The ATLANTIS trial was funded by Genentech, Inc., the makers of t-PA. The ECASS trial was funded by Boehringer Ingelheim Pharmaceuticals, which markets t-PA in Europe. The NINDS trials were funded by the NIH. Genentech provided the study drug and additional study monitoring as required by the FDA.
The NINDS is a component of the National Institutes of Health within the Department of Health and Human Services and is the nation's primary supporter of biomedical research on the brain and nervous system.
¹Association of outcome with early stroke treatment: pooled analysis of ATLANTIS, ECASS, and NINDS rt-PA stroke trials." Authors: The ATLANTIS, ECASS and NINDS r-t-PA Study Group Investigators. The Lancet , March 6, 2004, Vol. 363, pp. 768-774.

Sturge-Weber Syndrome

What is Sturge-Weber Syndrome?

Sturge-Weber syndrome is a neurological disorder indicated at birth by seizures accompanied by a large port-wine stain birthmark on the forehead and upper eyelid of one side of the face. The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries around the trigeminal nerve just beneath the surface of the face. Sturge-Weber syndrome is also accompanied by the loss of nerve cells and calcification of tissue in the cerebral cortex of the brain on the same side of the body as the birthmark. Neurological symptoms include seizures that begin in infancy and may worsen with age. Convulsions usually happen on the side of the body opposite the birthmark and vary in severity. There may be muscle weakness on the same side. Some children will have developmental delays and mental retardation; most will have glaucoma (increased pressure within the eye) at birth or developing later. The increased pressure within the eye can cause the eyeball to enlarge and bulge out of its socket (buphthalmos). Sturge-Weber syndrome rarely affects other body organs.
Is there any treatment?
Treatment for Sturge-Weber syndrome is symptomatic. Laser treatment may be used to lighten or remove the birthmark. Anticonvulsant medications may be used to control seizures. Surgery may be performed on more serious cases of glaucoma. Physical therapy should be considered for infants and children with muscle weakness. Educational therapy is often prescribed for those with mental retardation or developmental delays. Doctors recommend yearly monitoring for glaucoma.
What is the prognosis?
Although it is possible for the birthmark and atrophy in the cerebral cortex to be present without symptoms, most infants will develop convulsive seizures during their first year of life. There is a greater likelihood of intellectual impairment when seizures start before the age of 2 and are resistant to treatment.

Subacute Sclerosing Panencephalitis

What is Subacute Sclerosing Panencephalitis?

Subacute sclerosing panencephalitis (SSPE) is a chronic persistent infection of the central nervous system caused by an altered form of the measles virus. It affects primarily children and young adults and usually has a progressive downhill course which results in death within a few years in most patients with a 5% chance of spontaneous remission. It can occur anywhere from 2 to 10 years after the original measles illness, and generally results in progressive neurological deterioration due to brain inflammation and nerve cell death. Since the widespread use of the measles vaccine, SSPE has become very rare. However, studies have shown that the incidence of SSPE has remained high in the Middle East and India. Initial symptoms usually include abnormal behavior, irritability, intellectual deterioration, and memory loss which may be followed by involuntary movements and seizures (in the form of myoclonic spasms). Subsequently, the patient develops further mental deterioration, inability to walk, speech impairment with poor comprehension, and difficulty swallowing (dysphagia). Blindness may also result. In the final stages of disease, the patient may remain mute or comatose. The electrical activity of the brain, as recorded by electroencephalogram (EEG), shows progressive changes during the disease which are typical of SSEP and parallel the slow deterioration of central nervous system functions. A number of clinical staging scales have been used for several decades to categorize patients with SSPE according to their corresponding clinical status. More recently, a different staging system was developed based on the radiological findings of the brain by computed tomography (CT) and magnetic resonance imaging (MRI). This method, however, has not succeeded in establishing a complete correlation between radiological abnormalities and clinical progress.
Is there any treatment?
For several decades, the palliative treatment for SSPE has included anticonvulsant therapy and supportive measures (tube feedings and good nursing care especially in patients with advanced disease). Medical literature during the last decade, however, has shown stabilization of disease and delay in clinical progression after therapy with inosine pranobex (oral Isoprinosine); oral isoprinosine combined with intrathecal or intraventricular interferon alpha (up to 50% rate of remission or improvement); oral isoprinosine combined with interferon beta; and intrathecal interferon alpha combined with I.V. ribavirin. However, no controlled studies have been performed. The Food and Drug Administration has added inosine pranobex (Isoprinosine) to its List of Orphan Products Designations and Approvals (1988) for the treatment of SSPE.
What is the prognosis?
When not treated with immunomodulators (interferon) and antivirals (ribavirin and inosine pranobex) SSPE is almost always a fatal disease. Death usually occurs between 1 and 3 years after onset, although some spontaneous remissions (up to 5%) have been reported.

SUNCT Headache

What is SUNCT Headache?

SUNCT-Short-lasting, Unilateral, Neuralgiform headache attacks with Conjunctival injection and Tearing-is a rare form of headache that is most common in men after age 50. The disorder is marked by bursts of moderate to severe burning, stabbing, or throbbing pain, usually on one side of the head and around the eye or temple. Attacks typically occur in daytime hours and last from 5 seconds to 4 minutes per episode. Patients generally have five to six attacks per hour.
Autonomic nervous system responses include watery eyes, reddish or bloodshot eyes caused by dilation of blood vessels (conjunctival injection), nasal congestion, runny nose, sweaty forehead, swelling of the eyelids, and increased pressure within the eye on the affected side of head. Systolic blood pressure may rise during the attacks. Movement of the neck may trigger these headaches. SUNCT may be a form of trigeminal neuralgia and is considered one of the trigeminal autonomic cephalgias, or TACs.
Is there any treatment?
These headaches are generally non-responsive to usual treatment for other short-lasting headaches. Corticosteroids and the anti-epileptic drugs gabapentin, lamotrigine, and carbamazepine may help relieve some symptoms in some patients. Studies have shown that injections of glycerol to block the facial nerves that carry pain may provide immediate relief, but the headaches recurred in about 40 percent of patients studied.
What is the prognosis?
There is no cure for these headaches. The disorder is not fatal but can cause considerable discomfort.

Swallowing Disorders

What are Swallowing Disorders?

Swallowing disorders - defined as difficulty in passing food or liquid from the mouth to the stomach - occur in all age groups, but especially in the elderly. The disorders can occur at any stage of the normal swallowing process, in which food and liquid move from the mouth, through the pharynx, into the esophagus, and finally, into the stomach. The disorders are common in individuals with degenerative neurological disorders such as amyotrophic lateral sclerosis (ALS), postpolio syndrome, myasthenia gravis, multiple sclerosis, and Parkinson's disease, and may be the first symptom of the disease. They may also occur after sudden neurological damage as in stroke, or head or spinal cord injury, or indicate other problems, such as the presence of cancer or heart problems. People with swallowing disorders may suffer from weight loss or dehydration and may be at risk for developing pneumonia. Some individuals notice that the disorders get worse at times of stress or excitement.
Is there any treatment?
Drug therapy, including botulinum toxin injection, may provide relief to some individuals with swallowing disorders. Surgery may also be needed in severely affected persons. Many individuals can be helped by changing their diets and learning new feeding techniques, for example, positioning the head and neck in a certain way to help in swallowing.
What is the prognosis?
While in many cases, swallowing disorders can be partially or completely corrected, in some cases they can be life-threatening and require aggressive interventions, such as feeding tubes. The prognosis for people with swallowing disorders that accompany other diseases depends upon the severity of those other diseases.

Sydenham Chorea

What is Sydenham Chorea?

Sydenham chorea (SD) is a neurological disorder of childhood resulting from infection via Group A beta-hemolytic streptococcus (GABHS), the bacterium that causes rheumatic fever. SD is characterized by rapid, irregular, and aimless involuntary movements of the arms and legs, trunk, and facial muscles. It affects girls more often than boys and typically occurs between 5 and 15 years of age. Some children will have a sore throat several weeks before the symptoms begin, but the disorder can also strike up to 6 months after the fever or infection has cleared. Symptoms can appear gradually or all at once, and also may include uncoordinated movements, muscular weakness, stumbling and falling, slurred speech, difficulty concentrating and writing, and emotional instability. The symptoms of SD can vary from a halting gait and slight grimacing to involuntary movements that are frequent and severe enough to be incapacitating. The random, writhing movements of chorea are caused by an auto-immune reaction to the bacterium that interferes with the normal function of a part of the brain (the basal ganglia) that controls motor movements. Due to better sanitary conditions and the use of antibiotics to treat streptococcal infections, rheumatic fever, and consequently SD, are rare in North America and Europe. The disease can still be found in developing nations.
Is there any treatment?
There is no specific treatment for SD. For people with the mildest form, bed rest during the period of active movements is sufficient. When the severity of movements interferes with rest, sedative drugs, such as barbiturates or benzodiazepines, may be needed. Antiepileptic medications, such as valproic acid, are often prescribed. Doctors also recommend that children who have had SD take penicillin over the course of the next 10 years to prevent additional manifestations of rheumatic fever.
What is the prognosis?
Most children recover completely from SD, although a small number will continue to have disabling, persistent chorea despite treatment. The duration of symptoms varies, generally from 3 to 6 weeks, but some children will have symptoms for several months. Cardiac complications may occur in a small minority of children, usually in the form of endocarditis. In a third of the children with the disease, SD will recur, typically 1 ½ to 2 ½ years after the initial attack. Researchers have noted an association between recurrent SD and the later development of the abrupt onset forms of obsessive-compulsive disorder, attention deficit/hyperactivity disorder, tic disorders, and autism, which they call PANDAS, for Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus infection. Further studies are needed to determine the nature of the association and the biological pathways that connect streptococcal infection, autoimmune response, and the later development of these specific behavioral disorders.