Dejerine-Sottas syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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

Newly diagnosed with
Dejerine-Sottas syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

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