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

Publication ,  Journal Article
Bamford, NS; White, KK; Robinett, SA; Otto, RK; Gospe, SM
Published in: Dev Med Child Neurol
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 >8y) should be examined for signs of peripheral neuropathy, particularly when presenting with a 'waddling' or broad-based gait.

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Published In

Dev Med Child Neurol

DOI

EISSN

1469-8749

Publication Date

May 2009

Volume

51

Issue

5

Start / End Page

408 / 411

Location

England

Related Subject Headings

  • Pediatrics
  • Male
  • Humans
  • Hip Joint
  • Gait Disorders, Neurologic
  • Gait
  • Female
  • Diagnostic Techniques, Neurological
  • Child
  • Charcot-Marie-Tooth Disease
 

Citation

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Bamford, N. S., White, K. K., Robinett, S. A., Otto, R. K., & Gospe, S. M. (2009). Neuromuscular hip dysplasia in Charcot-Marie-Tooth disease type 1A. Dev Med Child Neurol, 51(5), 408–411. https://doi.org/10.1111/j.1469-8749.2008.03234.x
Bamford, Nigel S., Klane K. White, Stephanie A. Robinett, Randolph K. Otto, and Sidney M. Gospe. “Neuromuscular hip dysplasia in Charcot-Marie-Tooth disease type 1A.Dev Med Child Neurol 51, no. 5 (May 2009): 408–11. https://doi.org/10.1111/j.1469-8749.2008.03234.x.
Bamford NS, White KK, Robinett SA, Otto RK, Gospe SM. Neuromuscular hip dysplasia in Charcot-Marie-Tooth disease type 1A. Dev Med Child Neurol. 2009 May;51(5):408–11.
Bamford, Nigel S., et al. “Neuromuscular hip dysplasia in Charcot-Marie-Tooth disease type 1A.Dev Med Child Neurol, vol. 51, no. 5, May 2009, pp. 408–11. Pubmed, doi:10.1111/j.1469-8749.2008.03234.x.
Bamford NS, White KK, Robinett SA, Otto RK, Gospe SM. Neuromuscular hip dysplasia in Charcot-Marie-Tooth disease type 1A. Dev Med Child Neurol. 2009 May;51(5):408–411.
Journal cover image

Published In

Dev Med Child Neurol

DOI

EISSN

1469-8749

Publication Date

May 2009

Volume

51

Issue

5

Start / End Page

408 / 411

Location

England

Related Subject Headings

  • Pediatrics
  • Male
  • Humans
  • Hip Joint
  • Gait Disorders, Neurologic
  • Gait
  • Female
  • Diagnostic Techniques, Neurological
  • Child
  • Charcot-Marie-Tooth Disease