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

Diagnostic procedures

• very slow nerve conduction velocities (< 12m/sec)

More general terms

• Charcot-Marie-Tooth disease

Database

• OMIM: https://mirror.omim.org/entry/145900