Two siblings with limb-girdle muscular dystrophy type 2E responsive to deflazacort
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.
Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN, USA
Corresponding 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.
ABSTRACT