Initial semeiology in children with Charcot-Marie-Tooth disease 1A duplication

The aim of this study was to describe the initial signs and symptoms in Charcot-Marie-Tooth disease type 1A (CMT-1A). Twelve secondary cases with CMT-1A were serially evaluated. Ages at initial clinical examination ranged between 1 month and 5 years (mean, 2 years) and final ages between 6 and 23 years (mean, 13 years). First signs of the disease were detected at initial or upon serial examinations in all 12 patients at ages ranging between 1 and 10 years (median, 4 years). The most frequent signs were lower limb areflexia in 12, difficulty in heel walking in 8, nerve enlargement in 6, atrophy of intrinsic foot muscles in 6, clawing of toes in 5, pes cavus or cavus varus in 4, shortening of Achilles tendon in 3, peroneal weakness in 1, and stocking hypoesthesia in 1. Only three patients were symptomatic at the initial evaluation. We conclude that initial CMT-1A signs usually appear in early childhood, although they may be quite subtle and require serial examinations for detection. Lower limb areflexia is the only constant early sign.