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Dejerine Sottas Disease

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Copyright 1987, 1990, 1999, 2007

Synonyms of Dejerine Sottas Disease

Disorder Subdivisions

General Discussion

Dejerine-Sottas disease is an inherited neurological disorder that progressively affects mobility. Peripheral nerves become enlarged or thickened leading to muscle weakness. Progress of the disorder is irregular and often accompanied by pain, weakness, numbness, and a tingling, prickling or burning sensation in the legs. Many people with Dejerine-Sottas disease continue to lead active lives.

Most neurologists now consider this disorder to be one of 5 types of hereditary motor sensory neuropathy (HMSN) which simply means genetically transmitted disorder of the nerves associated with movement. Dejerine-Sottas disease is one of several that comprise Type III and in which the protective sheath around the long nerves breaks down (demyelination) for unknown reasons exposing and endangering the nerve. The nerves are enlarged due to an accumulation of connective tissue that may present in the form of "onion-bulbs".

Symptoms

Dejerine-Sottas disease tends to begin suddenly, usually between ten and thirty years of age. Tingling, prickling or burning sensations are usually the initial symptoms. Weakness is commonly first noticed in the muscles of the back of the leg. This then spreads to the front leg muscles. Pain, loss of heat sensitivity, absence of reflexes and atrophy of leg muscles are symptoms of Dejerine-Sottas disease.

Patients may eventually develop difficulty in walking. The hand and forearm muscles may become weak in later stages. Mild vision difficulties may also occur.

Causes

Dejerine-Sottas disease is inherited as a dominant trait. A recurrent loss of myelin (the protective sheath surrounding nerves) causes this disorder. Scientists do not yet know why the myelin disappears. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.)

Affected Populations

Dejerine-Sottas disease usually begins between ten and thirty years of age. This disorder is thought to affect males and females in equal numbers.

Related Disorders

Charcot-Marie-Tooth dsease, or peroneal muscular atrophy involves a chronic degeneration (breakdown) of the nerves. Nerves that supply the feet and legs and sometimes the hands are affected. (For more information, choose "CMT" as your search term in the Rare Disease Database.)

Hereditary sensory radicular neuropathy is a dominant hereditary disorder characterized initially by pain and loss of thermal sensation in the foot and lower leg. Later, attacks of sharp pain throughout the body may occur with muscle weakness and ulcers on toes.

Standard Therapies

Treatment of Dejerine-Sottas disease is symptomatic and supportive. Orthopedic surgery or foot bracing can often be of value to correct or stabilize joints involved with walking. Organizations offering assistance to individuals with vision or mobility deficits and their families can be helpful. Genetic counseling may also be of benefit to families and people with Dejerine-Sottas disease.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Organizations related to Dejerine Sottas Disease

References

ARTICLES
Reilly MM, Genetically determined neuropathies. J Neurol. 1998;245:6-13.

Vasilescu C, Hereditary motor and sensory neuropathy. Clinical, genetic and electrophysiological studies. Rom J Neurol Psychiatry. 1993;31:207-219.

Kouvaras G, et al., Hypertrophic peripheral neuropathy (Dejerine-Sottas disease) associated with heart block. Case report presentation and review of the literature. Jpn Heart J. 1990;31:404-410.

Mitchell GW, Response to immunosuppressive therapy in patients with hereditary motor and sensory neuropathy and associated dysimmune neuromuscular disorders. Eur Neurol. 1987;27:188-196.

FROM THE INTERNET
Charcot-Marie-Tooth disease: Causes - MayoClinic.com
www.mayoclinic.com/health/charcot-marie-tooth-disease/DS00557

Report last updated: 2007/08/08 00:00:00 GMT+0