title: Two siblings with limb-girdle muscular dystrophy type 2E responsive to deflazacort.
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 beta-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.
authors.affiliation: Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN, USA.
authors.forename: Lily C
authors.initials: LC
authors.lastname: Wong-Kisiel
authors.forename: Nancy L
authors.initials: NL
authors.lastname: Kuntz
mesh_terms: D000293:Adolescent; D001706:Biopsy; D002648:Child; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D005838:Genotype; D006801:Humans; D007150:Immunohistochemistry; D007166:Immunosuppressive Agents / Q000008:administration & dosage; D008297:Male; D053580:Muscle Strength / Q000187:drug effects / Q000502:physiology; D018482:Muscle, Skeletal / Q000187:drug effects / Q000378:metabolism / Q000503:physiopathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000188:drug therapy* / Q000235:genetics* / Q000503:physiopathology; D011282:Pregnenediones / Q000008:administration & dosage*; D049031:Sarcoglycans / Q000235:genetics; D012720:Severity of Illness Index; D035781:Siblings; D016896:Treatment Outcome
chemical_list: D007166:Immunosuppressive Agents; D011282:Pregnenediones; D049031:Sarcoglycans; C021988:deflazacort