Improved diagnosis of Becker muscular dystrophy by dystrophin testing

Neurology. 1989 Aug;39(8):1011-7. doi: 10.1212/wnl.39.8.1011.

Abstract

We assessed the quantity (relative cellular abundance) and quality (approximate molecular weight) of dystrophin in muscle biopsies from 97 patients with a diagnosis of possible Becker muscular dystrophy. Fifty-four (all male) had dystrophin abnormalities and were deemed to have true Becker muscular dystrophy. The other 43 patients (14 female, 29 male) had no detectable dystrophin abnormalities. Of the dystrophin-verified Becker dystrophy patients, 35% (19/54) had a family history consistent with X-linked recessive inheritance. On the other hand, none of the 43 patients with apparently normal dystrophin had a clear X-linked family history, suggesting that few of these 43 actually had a form of Becker dystrophy. The data suggest that of all patients with a clinical picture consistent with Becker dystrophy but no family history, about 60% will be true Becker patients. The correlation of both the biochemical and clinical data suggests that Duchenne/Becker dystrophy can be divided into 4 clinically useful categories: Duchenne dystrophy (wheelchair at about age 11 years; dystrophin quantity less than 3% of normal); severe Becker dystrophy (wheelchair age 13 to 20 years; dystrophin 3% to 10%); and moderate/mild Becker dystrophy (wheelchair greater than 20 years; dystrophin quantity greater than or equal to 20%). Given the observed clinical variability of Becker dystrophy, it appears that dystrophin analysis is required for accurately distinguishing between Becker dystrophy and clinically similar autosomal recessive myopathies.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Clinical Enzyme Tests
  • Creatine Kinase / blood
  • Diagnosis, Differential
  • Dystrophin
  • Female
  • Genes, Recessive
  • Genetic Linkage
  • Humans
  • Immunoblotting
  • Male
  • Middle Aged
  • Molecular Weight
  • Muscle Proteins / analysis*
  • Muscles / analysis
  • Muscular Dystrophies / diagnosis*
  • Muscular Dystrophies / genetics
  • Syndrome
  • X Chromosome

Substances

  • Dystrophin
  • Muscle Proteins
  • Creatine Kinase

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