CMT 1A: Hand involvement in children

[Guest guest]

Neuromuscul Disord. 2008 Nov 5.

Hand involvement in children with Charcot-Marie-Tooth disease type 1A.

Burns J, Bray P, Cross LA, North KN, MM, Ouvrier RA.

Discipline of Paediatrics and Child Health, Faculty of Medicine, The

University of Sydney, New South Wales, Australia; Institute for

Neuromuscular Research, The Children's Hospital at Westmead, Locked

Bag 4001, Westmead, NSW 2145, Australia.

Charcot-Marie-Tooth disease type 1A (CMT1A), a demyelinating

neuropathy characterised by progressive length-dependent muscle

weakness and atrophy, is thought to affect the foot and leg first

followed some time later by hand weakness and dysfunction. We aimed

to characterise hand strength, function and disease-related symptoms

in children with CMT1A.

Intrinsic and extrinsic hand strength was measured by hand-held

dynamometry, function by nine-hole peg test, and disease-related

symptoms by interview and examination in 84 affected children aged 2-

16 years. Hand weakness and dysfunction was present from the earliest

stages of the disease. While hand strength and function measures

tended to increase with age throughout childhood, at no point did

they reach normal values.

Day-to-day hand problems such as poor handwriting, weakness, pain and

sensory symptoms also worsened with age. The hand is affected at all

ages in children with CMT1A, but may be under-recognised in its early

stages, potentially delaying therapy