Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

Charcot-Marie-Tooth disease (CMT) 1 , 2 is the most common inherited peripheral neuropathy, with a frequency of 1 in 2500, 3 and is one of the most prevalent autosomal dominant diseases 4 . It is a clinically heterogeneous disorder of the peripheral nerves characterized by slowly progressive atrophy of the distal muscles, predominantly those innervated by the peroneal nerve 4 , 5 . Progressive weakness of varying intensity and atrophy of the muscles of the feet, hands, and legs, leading to pes cavus deformity, clawhand, and stork-leg appearance, usually begin in the second or third decade of life 4 , 5 . Enlarged greater auricular nerves may be . . .