Two siblings with limb-girdle muscular dystrophy type 2E responsive to deflazacort.
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.
Wong-Kisiel
Lily C
LC
Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN, USA.
Kuntz
Nancy L
NL
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
D007166:Immunosuppressive Agents; D011282:Pregnenediones; D049031:Sarcoglycans; C021988:deflazacort