Neuromuscular hip dysplasia in Charcot-Marie-Tooth disease  type 1A.
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.
Bamford
Nigel S
NS
Department of Neurology, University of Washington, and Seattle Children's Hospital, Seattle, WA 98195, USA. bamford@u.washington.edu
White
Klane K
KK
Robinett
Stephanie A
SA
Otto
Randolph K
RK
Gospe
Sidney M
SM
D000293:Adolescent; D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D002648:Child; D003943:Diagnostic Techniques, Neurological; D005260:Female; D005684:Gait; D020233:Gait Disorders, Neurologic / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology; D006621:Hip Joint / Q000473:pathology* / Q000503:physiopathology*; D006801:Humans; D008297:Male