Hypertrophic neuropathy of Dejerine-Sottas

Common Name(s)

Hypertrophic neuropathy of Dejerine-Sottas, Dejerine-Sottas disease

Hypertrophic neuropathy of Dejerine-Sottas (Dejerine-Sottas syndrome) is a term sometimes used to describe a severe, early childhood form of Charcot-Marie-Tooth disease (sometimes called type 3) that is characterized by sensory loss with ataxia in the limbs furthest from the body and pes cavus with progression towards the limbs closest to the body. Depending on the specific gene that is altered, this severe, early onset form of the disorder may also be classified as type 1 or type 4.  Dejerine-Sottas syndrome has been associated with mutations in the MPZ, PMP22, EGR2, and PRX genes. Autosomal dominant and autosomal recessive inheritance have been described.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hypertrophic neuropathy of Dejerine-Sottas" for support, advocacy or research.

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.