Dejerine-Sottas syndrome

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Name:
Dejerine-Sottas syndrome
Description:
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.
ORPHAcode:
64748
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
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14