Becker muscular dystrophy or spinal muscular atrophy?-Dystrophin studies resolve conflicting results of electromyography and muscle biopsy

Thomas D. McDonald, Rossella Medori, David S. Younger, Hai W. Chang, Carlo Minetti, Antonino Uncini, Eduardo Bonilla, Arthur P. Hays, Robert E. Lovelace

Research output: Contribution to journalArticle

Abstract

We studied a 29-year-old man with slowly progressive proximal leg weakness, calf hypertrophy, and high serum levels of creatine kinase activity. Clinically, it was not possible to identify his as a sporadic instance of Becker muscular dystrophy (BMD) or one of spinal muscular atrophy. The problem arose because electromyography and elevated creatine kinase suggested a myopathy whereas changes in the muscle biopsy resembled a neurogenic disorder. The diagnosis of BMD was made by DNA analysis which detected a deletion at Xp21 and by immunoelectrophoresis and immunohistochemical tests that identified an abnormal form of gene product, dystrophin. These studies were important for genetic counselling, identifying an X-linked disease instead of one that is autosomal recessive.

Original languageEnglish
Pages (from-to)195-200
Number of pages6
JournalNeuromuscular Disorders
Volume1
Issue number3
DOIs
Publication statusPublished - 1991

Keywords

  • Becker muscular dystrophy
  • dystrophin
  • spinal muscular atrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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