WILSON'S DISEASE

Proper Name:

Hepatolenticular Degeneration

Common Name:

Wilson's Disease

Age of Onset:

Most cases of Wilson's disease develop in children between the ages of six and twenty, although there have been reported cases of much older patients.

Duration:

Once the disease sets in, it will not go away naturally. The patient is unable to release excess copper, and it will continue to build up in the body, specifically in the liver and brain (basal ganglia) until the patient dies.

Males/Females/Race:

Sex does not affect one's chances of developing Wilson's because it is an autosomal recessive disease. Both sexes have an equal chance! However, one study showed that women are more likely to be carriers. This would be explained if female sex hormones aggravates either the body's inability to absorb copper or progressive liver failure, as the researchers concluded they might. The gene responsible for the disorder seems to have originated in central Europe; therefore Westerners are more likely to develop the disease than, say, Asian populations.

Cause:

Wilson's disease is caused by a defective gene responsible for coding the proteins necessary for absorbing copper. It is an autosomal recessive disease; many people are carriers for it and, if they marry someone else who is a carrier, have a 1/4 chance that they will pass it to a child.

Symptoms:

Since the excess copper accumulates in the liver and the brain, most people with Wilson's disease develop liver disease, and about half also develop psychological problems. Symptoms of liver disease include (but are not limited to) tiredness, increased bleeding, hypertension, enlargement of the spleen, accumulation of fluid in the abdominal cavity, cirrhosis (liver tissue being replaced by scar tissue), and, in the worst cases, liver failure. Liver failure means too much ammonia in the bloodstream, which hurts the brain and causes hepatic encephalopathy (or, "liver big-head-ness"). Psychological problems include depression, anxiety, a deviation from normal behavior, twitches, lack of coordination, and a slowing of normal activities (parkinsonism). Patients also suffer migraines. A tell-tale sign of Wilson's disease is something known as a Kayser-Fleischer ring, or an orange (copper-colored!) ring around the iris. This shows copper build up in the membrane of the cornea (pictured above). This sign is more common in those who suffer neurological problems. Wilson's disease can also lead to nephrocalcinosis, or a build-up of calcium in the kidneys. This is turn means there is less calcium in the bones--they weaken. Wilson's disease may also, in rare cases, cause the heart to beat irregularly (arrhythmia).

Prognosis:

As a genetic disorder, Wilson's is not curable unless the liver is transplanted, and this only happens in the most sever of cases. Otherwise, patients learn to live with their disorder by taking zinc supplements to keep copper from entering their liver and by avoiding foods high in copper, like chocolate.

Treatment Options:

Wilson's disease is treatable. Since it is a build-up of copper, the drugs used either stop copper from being absorbed or purge the body of its excess copper. One such drug is penicillamine. This drug causes the copper to be released through the patient's urine. However, many people develop lupus after taking this drug, and it only worsens the symptoms for those suffering neurological complications from Wilson's. Such patients are instead treated with trientine hypochloride. Once copper levels return to normal, doctors prescribe zinc supplements, which prevents copper from passing to the liver (and getting stuck there). The only total cure for Wilson's disease is a liver transplant, but this is only used in the most extreme cases (liver failure) because of the negative side-effects. Also, liver transplants do not help those with neurological problems.

Link: http://www.wilsonsdisease.org/

POLYMYOSITIS

Proper Name:
polymyositis

Common Name:
Polymyositis
(Polymyositis literally means "many muscle inflammation" in Latin.)

Age of Onset:
Polymyositis can occur at any stage of life, although it usually emerges in adulthood (ages twenty to sixty). It is relatively rare in teenages and children.

Duration:
It is a progressive degenerate disease. If polymyositis goes untreated, the patient's muscles will get weaker and weaker. However, it is curable, so it will stop if treated. Early diagnoses and treatment offer the highest probability of successful recovery.

Males/Females/Race:
This disease affects twice as many women as men, as do other muscular diseases such as fibromyalgia or dermatomyositis. It is also affects African Americans more than any other race, and Asian populations (particularly the Japanese) seem least affected by it.

Cause:
There is no established cause for polymyositis, but there are several factors that make one more likely to develop the disease. Firstly, some scientists have noticed that many people with polymyositis have different HLA (human leukocyte antigen) genes--polymyositis may be hereditary and related to autoimmune disorders. Secondly, exposure to certain viruses may trigger polymyositis. Some of these viruses are HIV, hepatits B, hepatitis C, and influenza. Thirdly, certain drugs may also trigger the disease. Many patients with polymyositis have been treated with D-penicillamine, hydralazine, phenytoin, or procainamide in the past.

Symptoms:
The first and most tell-tale symptom is weakness and fatigue of the muscles in the trunk--the pelvic girdle, the abdomen, and the shoulders. Patients lose strength in these muscles and have difficulty standing up after sitting down, climbing stairs, and lifting their heads above their shoulders. Others even have trouble swallowing or lifting their heads up from their pillows when they wake up. Patients' muscles are sore and tender to the touch; they may have trouble breathing. These symptoms can develop at different rates, but they usually become stronger within a period of weeks or months.

Some changes in the skin may occur, also. Sometimes patients may detect small calcifications under the skin. Their skin may redden (polymyositis and dermatomyositis are closely related inflammatory muscle diseases) and their hands may roughen and crack (shown in the picture).

Prognosis:
The prognosis for patients with polymyositis is favorable. The disease is curable or, if patients do not respond to treatment, at least suppressable with immune suppressors and other drugs (IVIg). Those patients that are cured can rebuild their muscles through physical therapy, although they may never return to their former strength. The efforts to reubild muscle eliminate muscle fatigue are most successful when the condition was caught early on and treated quickly. Life after polymyositis is relatively normal. However, the most common treatment option, corticosteriods, increases the risk for osteoporosis, an already common disease among older women, the prime target of polymyositis.

Treatment Options:
Themost common treatment for polymyositis is a high-dose of steriods, specifically corticosteriods. If this does not work, doctors use immune-suppressing drugs such as azathioprine and IVIg (intravenous immunoglobulins).

Link:
I received most of my information from http://www.answers.com/topic/polymyositis and the Wikipedia article on the subject, in addition to this more reputable source from the National Institutes of Health: http://www.ninds.nih.gov/disorders/polymyositis/polymyositis.htm.