This neuromuscular disorder, which causes progressive muscle weakness in the extremities, is due to an abnormality of the neurotransmitter acetylcholine. Research suggests the syndrome may be an autoimmune disorder.

Researchers at Wake Forest Baptist Medical Center, North Carolina, collected sputum from 12 people with cystic fibrosis (CF) and 11 individuals without the disease. They analyzed the samples and discovered, ... Read More

Nuchal translucency screening for fetal abnormalities during the first trimester of pregnancy is the standard of care in European countries, Israel, and Australia. In the United States, however, this noninvasive ... Read More

Kennedy disease, also known as spinal bulbar muscular atrophy, is an inherited disorder of motor and sensory neurons. Although the symptoms become worse over time, life expectancy is not affected.

Electromyography (EMG) is usually a painful, invasive way to test muscle function in many neuromuscular disorders, such as amyotrophic lateral sclerosis (ALS, or Lou Gehrig's disease) and muscular dystrophy. Researchers ... Read More

This inherited disorder is linked to the X (female) chromosome, so the majority of individuals affected by it are male. The syndrome consists of eye, muscle, and kidney disorders.

A study published in the July 2004 issue of Archives of Diseases in Childhood reports data gathered by doctors at the Institute of Child Health, London, about children who develop ... Read More

This syndrome, formerly known as the Ondine curse, is a disorder of the automatic control of breathing. During sleep, the body "forgets" to breathe. It is not known what exactly causes the ... Read More

Researchers at Duke University Medical Center in North Carolina studied the effects of a low-carbohydrate diet similar to Atkins on 9 people with narcolepsy, a neurological disorder that causes excessive ... Read More

A study published in the June 15, 2004, issue of Clinical Infectious Diseases pinpoints the cause of the foodborne illness experienced by 13 people in Arizona, California, and New Mexico ... Read More

This inherited condition results from an abnormality in collagen in the body. Individuals with osteogenesis imperfecta have fragile bones which break easily, sometimes even before birth.

Researchers at Australian National University have identified proteins that determine which mice succumb to mousepox and which do not. This insight into the immune system response to this type of ... Read More

Defects in a group of enzymes known as glycosyltransferases, particularly one called LARGE, have been implicated in at least six different types of muscular dystrophy. Researchers at the Howard Hughes ... Read More