ERIC Number: EJ849704
Record Type: Journal
Publication Date: 2009-May
Abstractor: As Provided
Reference Count: 0
Neuromuscular Hip Dysplasia in Charcot-Marie-Tooth Disease Type 1A
Bamford, Nigel S.; White, Klane K.; Robinett, Stephanie A.; Otto, Randolph K.; Gospe, Sidney M., Jr.
Developmental Medicine & Child Neurology, v51 n5 p408-411 May 2009
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 greater than 8y) should be examined for signs of peripheral neuropathy, particularly when presenting with a "waddling" or broad-based gait.
Descriptors: Neurological Impairments, Heredity, Genetic Disorders, Clinical Diagnosis, Symptoms (Individual Disorders), Children, Adolescents, Psychomotor Skills, Physical Disabilities
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Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Authoring Institution: N/A