Children with CMT1A Research - from Spain

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Abstract from Muscle & Nerve Volume 27, Issue 1, 2003. Pages: 34-39

Online: 6 Dec 2002

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

duplication

José Berciano, MD *, García, MD, Onofre Combarros, MD

Service of Neurology, University Hospital Marqués de Valdecilla,

University of Cantabria, Santander 39008, Spain

Abstract

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.