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References OMIM Gene GeneReviews HGMD HGNC
last update : 21/08/07
Symbol DSS1
Location 17p11.2
Name Dejerine-Sottas syndrome 1
Corresponding gene PMP22
Main clinical features
  • severe form of hypertrophic axonal and demyelinating neuropathy
  • hypertrophic neuropathy with nystagmus, distal muscular weakness, distal sensory change, pes cavus and exacerbations and remissions
  • spinal nerve root enlargement was demonstrable by myelography; elevated spinal fluid protein is often found; 'Onion bulb' formation makes the histologic diagnosis
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Genotype/Phenotype correlations compound heterozygous deletions of PMP22 causing severe phenotype