Diagnostic challenges in facioscapulohumeral muscular dystrophy

Neurology. 2006 Oct 24;67(8):1464-6. doi: 10.1212/01.wnl.0000240071.62540.6f.

Abstract

The diagnosis of facioscapulohumeral muscular dystrophy (FSHD) can be difficult due to its clinical variability and complex genetic cause. We present three challenging cases: one misdiagnosis of FSHD, one patient with FSHD resembling mitochondrial myopathy, and one patient with combined FSHD and limb girdle muscular dystrophy 2A. Detailed clinical and genetic evaluation, including 4qA/4qB allele determination, may be needed for the diagnosis of FSHD.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Alleles
  • Chromosomes, Human, Pair 4
  • Diagnosis, Differential
  • Diagnostic Errors
  • Gene Deletion
  • Gene Dosage
  • Humans
  • Male
  • Middle Aged
  • Mitochondrial Myopathies / diagnosis
  • Muscular Dystrophies, Limb-Girdle / complications
  • Muscular Dystrophy, Facioscapulohumeral / complications
  • Muscular Dystrophy, Facioscapulohumeral / diagnosis*
  • Muscular Dystrophy, Facioscapulohumeral / genetics
  • Muscular Dystrophy, Facioscapulohumeral / pathology
  • Mutation
  • Polymorphism, Genetic
  • Tandem Repeat Sequences