CMT 1 A: Neuromuscular hip dysplasia

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Dev Med Child Neurol. 2009 May;51(5):408-11.

Neuromuscular hip dysplasia in Charcot-Marie-Tooth disease type 1A.

Bamford NS, White KK, Robinett SA, Otto RK, Gospe SM Jr.

Department of Neurology, University of Washington, and Seattle Children's

Hospital, Seattle, WA 98195, USA.

Charcot-Marie-Tooth disease (CMT) is one of the most common inherited

neurological disorders, affecting 36 in 100,000 people. CMT type 1A (hereditary

motor and sensory neuropathy) is the most frequent form of this disease,

affecting 60 to 80% of the CMT population, but its diagnosis may be delayed

because of inconsistent clinical signs and symptoms and a considerable

variability in age at onset.

Here, we report on four children (aged 10-17y) who presented with neuromuscular

hip dysplasia and other orthopedic abnormalities but were only later diagnosed

with CMT 1A. Hip dysplasia may be the initial clinical sign in CMT, so children

with late-manifesting hip disease (i.e. age >8y) should be examined for signs of

peripheral neuropathy, particularly when presenting with a 'waddling' or

broad-based gait.