Current classification and genotype-phenotype correlations in hereditary motoric-sensitive neuropathies (Charcot-Marie-Tooth syndrome) and related neuropathies

Charcot-Marie-Tooth (CMT) disease is the most common inherited disorder of the peripheral nervous system with an incidence of 40:100,000. Clinically, it is characterized by distal muscle weakness and wasting, primarily of the legs and later of the arms, foot deformity, diminished or absent tendon re flexes, acid mild-to-moderate sensory loss. Molecular genetic studies over the past 2 decades have revealed the genetic heterogeneity of this disorder and the identification of different genes or gene loci, respectively. Ther efore, a current CMT classification though constantly changing due to ongoi ng detection of further genetic defects must take into consideration both p henotypic and genotypic criteria. Since certain clinical features appear to be associated with specific genetic subtypes, we provide a detailed descri ption of characteristic phenotypic variants to facilitate differential diag nosis and allow more precise referral to subsequent genetic investigations.