Charcot-Marie-Tooth (CMT) disease is a hereditary motor and sensory neuropathy characterized by similar phenotype despite genetic heterogeneity1. Charcot-Marie-Tooth type 1A, linked to a ~1.4 Mb duplication containing the peripheral myelin protein-22 gene on chromosome 17p11.2, accounts for ~50% of all CMT patients. Disease severity varies considerably in CMT1A, however, the prototypical phenotype involves weakness and atrophy of distal limb muscles, distal sensory deficits and diminished deep tendon reflexes with symptoms appearing in childhood7. Interestingly, increased motor and sensory impairment is observed in CMT1A patients with diabetes.
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