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Dejerine-Sottas syndrome; Dejerine-Sottas neuropathy; hereditary motor & sensory neuropathy 3
Pathology:
- motor & sensory neuropathy
- severe degenerating neuropathy of the Charcot-Marie-Tooth disease type 1 class
- hypertrophic nerve changes
Genetics:
- autosomal dominant & autosomal recessive forms
- associated with defects in periaxin gene
- associated with defects in EGR2 gene
- associated with defects in PMP22 gene
- associated with defects in MPZ gene
Clinical manifestations:
- onset by age 2 years
- severe early onset motor & sensory neuropathy
- delayed age of walking
- areflexia
Laboratory:
- elevated cerebrospinal fluid protein concentrations (0.7 g/l)
- PMS2 gene deletion, duplication & mutation analysis
- GJB1 genotyping
Special laboratory:
- very slow nerve conduction velocities (< 12m/sec)
General
Charcot-Marie-Tooth disease (peroneal muscle atrophy, hereditary sensorimotor polyneuropathy (HSMN))
Database Correlations
OMIM 145900
References
OMIM :accession 145900