Multiple system atrophy is a disorder in which multiple parts of the nervous system experience degeneration. The term encompasses three syndromes, including Shy-Drager syndrome, which were once thought to be ... Read More

University of Pennsylvania researchers compared environmental exposures among 311 individuals with sarcoidosis limited to the lungs and 407 individuals with systemic disease. They found that exposure to agricultural organic dusts, ... Read More

Genzyme is now screening people with late-onset Pompe disease, a rare muscle disease caused by a deficiency of the enzyme acid a-glucosidase, for a future trial to evaluate Myozyme (alglucosidase ... Read More

The symptoms of Lafora disease, an inherited form of epilepsy, usually begin in late childhood or adolescence and become progressively worse. In addition to seizures, there are muscle spasms, difficulty ... Read More

Researchers from Queensland Institute of Medical Research, Australia, conducted an analysis of case studes on Ewing's sarcoma, a childhood cancer. They found an increase in Ewing's sarcoma risk for children ... Read More

Dr. Robert L. Davis from Group Health Cooperative in Seattle, Washington, and his colleagues wanted to examine the relationship between group A beta-hemolytic streptococcal infection and the onset of obsessive-compulsive ... Read More

This inherited retinal degenerative disorder causes an infant to be born with severely impaired vision, and to develop roving eye movements (nystagmus). A number of gene mutations have been associated ... Read More

According to a study published in the June 15, 2005, issue of Blood, individuals with Gaucher disease, a lipid storage disorder, have an increased risk of developing multiple myeloma, a ... Read More

A study of 89 boys with adrenoleukodystrophy (ALD), a neurodegenerative disorder, suggests a possible preventative use of "Lorenzo's oil," an olive and rapeseed oil extract which is combined with a ... Read More

This X-linked genetic disorder, sometimes termed Bloch-Sulzberger syndrome, may cause neurological problems, serious eye disorders, tooth abnormalities, and unique skin lesions and pigmentation. Incontinentia pigmenti may also occur with Klinefelter ... Read More

A study of 103 children with Down syndrome who underwent thyroid function testing between 6 and 14 years of age and again 4-6 years later found that raised levels of ... Read More

Researchers from The University of Texas M.D. Anderson Cancer Center investigated the effects of interferon-alpha in 20 individuals with essential thrombocythemia, an overproduction of platelets in the blood. One ... Read More

This disorder causes areas of skin to have partial or total absence of pigment. Unlike vitiligo, the light areas in hypomelanosis of Ito are not symmetrical and often form whorls. ... Read More