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Other HMSN-/ CMT-Genes: EGR2, FGD4, NEFL, LITAF/SIMPLE, NDRG1, PRX, GDAP1, RAB7, HSPB1, HSPB8, DNM2, YARS, KARS, TRPV4, AARS, FIG4, MTMR2, SBF2

Clinical Features

Mutations in the genes listed above cause neuropathies that clinically resemble the symptoms of a CMT neuropathy caused by a duplication or deletion in the PMP22 gene (symmetric atrophy, pes cavus, etc.). Depending on the mutation, severe neuropathies in early childhood may also occur [Dejerine Sottas neuropathy (DSN) congenital hypomyelinating neurpathy (CHN)]. Additional symptoms, such as ulceration, vocal cord paresis, hearing impairment, etc., may occur and sometimes indicate the disease-causing genetic mutation. Mutations in some genes (HSPB1, HSPB8, GARS) cause either an axonal HMSN (CMT2) or a pure motor neuropathy (dHMN). Childhood types of the disease usually reveal significant reduction in nerve conduction velocity. Due to the developing axonal damage, electrophysiologocal measurement becomes impossible. Classification according to chromosomal loci (HMSN and HMN) can be found in the introduction to our neuropathy section.

Diagnostic