Primary α-sarcoglycan deficiency responsive to immunosuppression over three years

A. M. Connolly, A. Pestronk, S. Mehta, M. Al-Lozi

Research output: Contribution to journalArticlepeer-review

36 Scopus citations

Abstract

An 8-year-old girl developed weakness over 2 years and an elevated creatine kinase. The biopsy was most consistent with an active dystrophy with many inflammatory cells present. A trial of immunosuppression was started. In the first 2 months of treatment with prednisone, she had functionally and quantitatively significant improvement in her proximal strength. Over 3 years of treatment she maintained stable strength. Subsequent genetic studies showed that she had primary α-sarcoglycan deficiency. The timing and the degree of benefit in strength were similar to that seen in boys with Duchenne muscular dystrophy who are treated with prednisone.

Original languageEnglish
Pages (from-to)1549-1553
Number of pages5
JournalMuscle and Nerve
Volume21
Issue number11
DOIs
StatePublished - 1998

Keywords

  • Adhalin
  • Duchenne muscular dystrophy
  • Limb-girdle muscular dystrophy type 2D
  • Polymyositis
  • α-sarcoglycan

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