Results of a pilot study suggest that vardenafil (Levitra) improves symptoms and blood flow to the fingers in both warm and cold temperatures in individuals with Raynaud disease. Researchers at ... Read More

The terms lichen myxedematosus, papular mucinosis, and scleromyxedema are used to describe different forms of the same disorder, a chronic connective tissue disorder in which mucin deposits form in the ... Read More

Ataxia is a hereditary disease that causes loss of mucle control and coordination. Researchers at the University of Minnesota Medical School have discovered beta-III spectrin (SPTBN2) mutations are responsible for ... Read More

The neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative disorders. Batten disease is the term applied to the juvenile form of NCL, although some physicians use the term to ... Read More

Batten disease is the term applied to the inherited juvenile form of neuronal ceroid lipofuscinosis. Symptoms of Batten disease usually begin between ages 5 and 8 years, and become progressively ... Read More

In the February 2006 issue of Pain, researchers from Massachusetts General Hospital describe finding that skin affected by reflex sympathetic dystrophy, also known as complex regional pain syndrome-I (CRPS-I), appears ... Read More

According to researchers at King's College Hospital Medical School in London, nuchal translucency measurement can identify not only trisomy 21 (Down syndrome), but trisomy 13 (Patau syndrome) and trisomy 18 ... Read More

Many families affected by rare disorders know how a congenital heart defect can affect the life of a child. Some defects, such as hypoplastic left heart syndrome, are themselves rare. ... Read More

In what doctors say is an incredibly rare event, Eloysa Vasquez, 38, gave birth on January 24, 2006, to a healthy baby boy. Vasquez, affected by the bone disorder osteogenesis ... Read More

Guillain-Barre syndrome, also called acute inflammatory demyelinating polyneuropathy, comes on quickly, and usually its symptoms and a physical examination point to the diagnosis. Recovery can take months, and some people ... Read More

According to the results of a small study by researchers at the Mayo Clinic in Rochester, Minnesota, rituximab (Rituxan) is well tolerated and effective in inducing remission in severe Wegener ... Read More

Medical researchers have a great need for brain tissue to conduct studies of neurological disorders like Parkinson’s disease, amyotrophic lateral sclerosis (Lou Gehrig’s disease), lissencephaly, and many others. So why ... Read More

No, there aren’t shelves of brains sitting in glass jars like in Young Frankenstein. (If you must know, brain tissue is cut into sections and placed in deep freezer storage.) ... Read More

This article presents information about four research studies of multiple myeloma (MM) in December 2005 and January 2006, including Celgene Corp.'s successful phase III trial of its drug Thalomid; treatment ... Read More

Hartnup disease is an inherited inborn error of metabolism of amino acids in the small intestine and kidneys. Most individuals do not have symptoms, but exposure to sunlight or poor ... Read More

Short-term studies have suggested that inhaling a hypertonic (7%) saline solution stimulates mucus clearance from the lungs and increases hydration of the airway surface in individuals with cystic fibrosis, an ... Read More

A study published in the January 5, 2006, issue of Neuron details the work of researchers at the University of California San Diego (UCSD) School of Medicine. They have been ... Read More