In narcolepsy, individuals have trouble with excessive daytime sleepiness. They may even fall asleep suddenly while doing something. Researchers in Japan looked at the genes of 222 Japanese people with ... Read More

Histidinemia is an inherited metabolic disorder that affects both males and females. In histidinemia there is a deficiency of the enzyme histidase, which is necessary for the breakdown of the ... Read More

Leigh's disease is an inherited metabolic disorder. Symptoms of the damage it does to the central nervous system begin to show between 3 months to 2 years of age. In ... Read More

On September 12, 2008, the U.S. Food and Drug Administration (FDA) announced that it has approved Gamunex (immune globulin IV) for the treatment of chronic inflammatory demyelinating polyneuropathy (CIDP). CIDP ... Read More

If you don't already belong to a rare disease support group, you might think about joining one. It can help you feel less alone, and you can share stories with ... Read More

CBC News reports that children with chronic illnesses told a researcher for a Calgary pediatric study that they want to play a bigger role in their own treatment. Andrea Pritchard, ... Read More

The body needs small amounts of copper. If we take in too much copper in our food, normally the body gets rid of the excess. In Wilson's disease, this doesn't ... Read More

The standard treatment for multiple myeloma, a blood cell cancer, is taking the drugs Alkeran (melphalan) and prednisone. Velcade (bortezomib) has also been shown to be an effective treatment. A ... Read More