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
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
2 comments:
My son 23 has been a victim of Chronic SCHIZENCEPHALY for many years. I am excited to share this testimony as i have been sad and confused for the past 23 years of my son been a victim of SCHIZENCEPHALY. Anti-psychotic medicine they induce psychosis, never helped rather worsened the situation, Homeopathy medication is good but has a lot of limitation too. I looked for solution everywhere all to no avail until I contacted a Herbal Doctor whose medicine works perfectly for him, my son situation has greatly improved which is what I have always wanted. If you have related problem, don't lose hope, contact him (ronniemd70@gmail.com)
I don’t want people to feel sorry for me, that’s not why I am writing this post. My child six years ago, was born with Bi-lateral closed lip schizepcephaly, which is even more unique than the regular cases. Due to this disability, she also developed Cerebral Palsy affecting the left side of her body. We’ve learned the part of her brain which has been affected has also impaired her ability to reason. We’ve been lucky so far though it affects everyone differently and she had been on the very mild side of everything. Another thing we had to dealt with much are seizures. She was highly prone to having one or multiples and we’ve seemed to look out with some petite mals when she was younger and they occurred in her sleep more than any other time.
Luckily, everything seemed to be okay after she took an Herbal Medicine. I wish I could say that’s the end of it because she havn't had any symptoms since then.
Having a child with special needs is difficult. You sit living in fear of the reality your child may face, never really knowing what will happen until it does. Do not expose yourself to more danger, use a herbal remedy that is safe and effective. If interested contact him:
ronniemd70@gmail.com to find out more information about the disorder and treatment.
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