Neurofibromatosis: A Genetic Disorder of the Nervous System

Neurofibromatosis is a genetic disease that mostly affects the development of nerve cells. Also called NF for short, neurofibromatosis has two forms, NF1 (more common) and NF 2 (less common). As a story from a Dallas TV station notes, neurofibromatosis is more common than you might think, affecting one in 3,000 people.

The U.S. government's National Institute of Neurological Disorders and Stroke (NINDS) has a neurofibromatosis information page that explains the disease in plain English. According to this page, "These disorders cause tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities." NINDS also has a handy neurofibromatosis fact sheet. Symptoms of NF1 are often noticeable at birth or in infancy, usually in the appearance of the skin.

You can find information and support for neurofibromatosis at the  Web site of the Neurofibromatosis, Inc. NINDS also has an article on the proceedings of a workshop on neurofibromatosis in children, addressing basic and clinical research, animal models, treatment, and more.

Tay-Sachs Disease: Symptoms, Treatment, Prognosis

Tay-Sachs disease is a fatal genetic neurological disorder that usually develops in children (and rarely in adults in their 20s or 30s). While babies can seem to develop normally at first, but then mental and physical abilities deteriorate over time. Eventually the child loses sight, hearing, and the ability to swallow; muscles atrophy; and paralysis results. There is no cure or treatment.

Tay-Sachs disease involves a problem with the storage of lipids (fats) in which harmful amounts of a particular fatty substance accumulates in tissues and nerve cells in the brain.

An article from the U.S. National Institutes of Health discusses what happens in Tay-Sachs disease, how it progresses, symptoms, treatment of symptoms, and prognosis.

Another article, from the National Human Genome Research Institute, offers a list of frequently asked questions about Tay-Sachs disease. And KidsHealth.org examines Tay-Sachs screening, who's at risk, prenatal diagnosis, and more.

Hereditary Sensory and Autonomic Neuropathy

Hereditary Sensory and Autonomic Neuropathy, often abbreviated as HSAN, refers to as many as six different degenerative disorders of the nervous system that involve loss of feeling, particularly in the hands and feet.

HSAN is a rare genetic condition caused by the abnormal functioning of the sensory nerves that control responses to pain and temperature, according to an article in WebMD. In one type of HSAN, HSAN 1, sufferers may have a lack of sensation in their extremities, and may be unable to sweat from those parts of their body unless their body temperature becomes dangerously high.

Sufferers from other types of HSAN may have the opposite problems: they may have pain shooting up through their legs, and they may find that they sweat excessively.