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

Published

Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Bamford, NS; White, KK; Robinett, SA; Otto, RK; Gospe, SM

Published Date

  • May 2009

Published In

Volume / Issue

  • 51 / 5

Start / End Page

  • 408 - 411

PubMed ID

  • 19388151

Pubmed Central ID

  • 19388151

Electronic International Standard Serial Number (EISSN)

  • 1469-8749

Digital Object Identifier (DOI)

  • 10.1111/j.1469-8749.2008.03234.x

Language

  • eng

Conference Location

  • England