Is Dejerine-Sottas really a type of Charcot-Marie-Tooth disease (CMT)?
In their attempts to understand and classify this disease, doctors have referred to Dejerine-Sottas by a veritable host of names. Reply from MDA: Yes, Dejerine-Sottas syndrome (DS or DSS) is a form of CMT. There has been some confusion in the terminology use in the CMT group of disorders. In reality, CMT is a clinical and genetically heterogeneous disorder. The Dejerine-Sottas syndrome or Hereditary motor and sensory neuropathy type 3 (HMSN III), or CMT3, was originally described as an autosomal recessive interstitial hypertrophic neuropathy of infancy. The early onset of the symptoms, the severity of the clinical features and the presence of the enlarged nerves suggest the diagnosis. However, the same phenotype (clinical features) can be seen in some cases of CMT1A and in homozygous (both parents affected) CMT1A cases. In fact, most DDS cases tested represent de novo point mutations (new mutations) in either Myelin Protein Zero (CMT 1B) or PMP 22 (CMT1A). Most cases represent dominant
