Dejerine-Sottas syndrome

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Dejerine-Sottas syndrome

Synonyms: Charcot-Marie-Tooth disease type 3 | HMSN 3 | HMSN III | Hereditary motor and sensory neuropathy type 3 | Hereditary motor and sensory neuropathy type III

A clinical entity that represents a severe phenotype of Charcot-Marie-Tooth disease characterized by onset occurring in infancy severe motor weakness delayed motor development extremely slow nerve conduction (< 10-12 m/s) areflexia and foot deformity. Mutations in the genes PMP22 (17p12) MPZ (1q22) EGR2 (10q21.1) and PRX (19q13.2) have been implicated.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Dejerine-Sottas syndrome?

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Advocacy Organizations

Hereditary Neuropathy Foundation

Hereditary Neuropathy Foundation (HNF) is a non-profit 501(c)3 organization which mission is to increase awareness and accurate diagnosis of Charcot-Marie-Tooth (CMT) and related inherited neuropathies, support patients and families with critical information to improve quality of life, and fund research that will lead to treatments and cures.

Clinical Trials

For a list of clinical trials in this disease area, please click here.