Two siblings with limb-girdle muscular dystrophy type 2E responsive to deflazacort

Lily C. Wong-Kisiel, Nancy L. Kuntz

Research output: Contribution to journalArticle

14 Scopus citations

Abstract

Two siblings were evaluated for progressive proximal weakness and elevated creatine kinase. Immunohistochemical staining in the brother's muscle biopsy showed near absence of all four sarcoglycan subunits. Clinical progression prompted a trial of deflazacort in both siblings. At 22 months of drug therapy, both patients have stable or improved strength testing. Further analysis on the muscle biopsy revealed homozygous β-sarcoglycan gene mutation (S114F), consistent with the limb-girdle muscular dystrophy type 2E (LGME 2E). Despite the severe phenotype, deflazacort has a beneficial effect on slowing disease progression in LGME 2E similar to that seen in Duchenne muscular dystrophy.

Original languageEnglish (US)
Pages (from-to)122-124
Number of pages3
JournalNeuromuscular Disorders
Volume20
Issue number2
DOIs
StatePublished - Feb 1 2010

Keywords

  • Limb-girdle muscular dystrophy
  • Sarcoglycanopathy
  • deflazacort

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

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