Dejerine–Sottas disease

From WikiMD.org
Jump to navigation Jump to search

Dejerine–Sottas disease (pronunciation: Deh-zheh-reen Soh-tahs disease) is a rare, genetic neurological disorder characterized by severe sensory and motor neuropathy. The disease is named after Joseph Jules Dejerine and Jules Sottas, the French neurologists who first described the condition in the late 19th century.

Etymology

The term "Dejerine–Sottas" is derived from the names of Joseph Jules Dejerine and Jules Sottas, who first described the condition. Dejerine was a French neurologist known for his work on the nervous system, while Sottas was his student and collaborator.

Symptoms

The symptoms of Dejerine–Sottas disease typically begin in infancy or early childhood. They include muscle weakness (hypotonia), decreased sensation or numbness (paresthesia), and decreased ability to feel vibrations and touch (sensory neuropathy). Other symptoms may include curvature of the spine (scoliosis), joint deformities (contractures), and vision and hearing problems.

Causes

Dejerine–Sottas disease is caused by mutations in genes that are involved in the structure and function of peripheral nerves. These include the PMP22, MPZ, PRX, and EGR2 genes. The disease is inherited in an autosomal dominant or recessive manner.

Diagnosis

Diagnosis of Dejerine–Sottas disease is based on clinical symptoms, family history, and genetic testing. Electromyography (EMG) and nerve conduction studies may also be used to confirm the diagnosis.

Treatment

There is currently no cure for Dejerine–Sottas disease. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and pain management.

See also

External links

Esculaap.svg

This WikiMD dictionary article is a stub. You can help make it a full article.


Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski