Neuromuscular Disorders
Volume 20, Issue 2 , Pages 122-124, February 2010

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

  • Lily C. Wong-Kisiel
    • ,
  • Nancy L. Kuntz

      Affiliations

    • Corresponding Author InformationCorresponding author. Address: Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic College of Medicine, 200 First St. SW, Rochester, MN 55905, USA. Tel.: +1 507 284 3351; fax: +1 507 284 0727.

Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN, USA

Received 1 June 2009; received in revised form 23 September 2009; accepted 4 November 2009.

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 22months 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.

Keywords: Limb-girdle muscular dystrophy, Sarcoglycanopathy, deflazacort

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PII: S0960-8966(09)00687-7

doi:10.1016/j.nmd.2009.11.005

Neuromuscular Disorders
Volume 20, Issue 2 , Pages 122-124, February 2010

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