" /> Hypertrophic neuropathy of dejerine-sottas - CISMeF





Preferred Label : Hypertrophic neuropathy of dejerine-sottas;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth disease, type 3; Dejerine-sottas syndrome; CMT3; DSN; Hereditary motor and sensory neuropathy type III; DSS; Dejerine-sottas neuropathy; HMSN3;

Description : Dejerine-Sottas neuropathy is a demyelinating peripheral neuropathy with onset in infancy. It can show autosomal dominant or recessive inheritance. Affected individuals have delayed motor development due to severe distal motor and sensory impairment, resulting in difficulties in gait. Some patients have generalized hypotonia in infancy. Other features may include pes cavus, scoliosis, and sensory ataxia. Nerve conduction velocities are severely decreased (sometimes less than 10 m/s), and sural nerve biopsy shows severe loss of myelinated fibers (summary by Baets et al., 2011).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the early growth response-2 gene (EGR2, 129010.0004); Caused by mutation in the peripheral myelin protein-22 gene (PMP22, 601097.0006); Caused by mutation in the myelin protein zero gene (MPZ, 159440.0004); Caused by mutation in the periaxin gene (PRX, 605725.0001);

Prefixed ID : #145900;

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27/07/2025


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