Double Trouble in Hereditary Neuropathy

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Abstract
Hereditary motor and sensory neuropathy (HMSN) is a relatively common neuromuscular disorder with a prevalence of approximately 14 to 282 per million.1 Charcot-Marie-Tooth (CMT) disease is the most common HMSN, accounting for approximately 90% of diagnosed cases.1 There are several unique CMT phenotypes, each caused by a mutation in a different gene.2,3 Most often, CMT is caused by a mutation in the peripheral myelin protein 22 gene (PMP-22).4PMP-22 is an important component of myelin adhesion.5Duplication in the PMP-22 gene produces CMT disease type 1A (CMT1A), while PMP-22 deletions result in another subtype of HMSN, hereditary neuropathy with liability to pressure palsies (HNPP).6,7 Both CMT1A and HNPP are inherited in an autosomal dominant pattern.