Primary alpha-sarcoglycan deficiency responsive to immunosuppression over three years.
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 alpha-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.
Department of Neurology, Washington University School of Medicine, St. Louis Children's Hospital, Missouri 63110, USA.
A M
AM
Connolly
A
A
Pestronk
S
S
Mehta
M
M
Al-Lozi
D019943:Amino Acid Substitution; D000893:Anti-Inflammatory Agents / Q000008:administration & dosage*; D000906:Antibodies; D001706:Biopsy; D002648:Child; D003598:Cytoskeletal Proteins / Q000172:deficiency* / Q000235:genetics / Q000276:immunology; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000032:analysis / Q000276:immunology; D005260:Female; D006801:Humans; D007136:Immunoglobulins / Q000032:analysis; D007165:Immunosuppression Therapy; D008264:Macrophages / Q000276:immunology; D008562:Membrane Glycoproteins / Q000172:deficiency* / Q000235:genetics / Q000276:immunology; D018482:Muscle, Skeletal / Q000737:chemistry / Q000276:immunology / Q000473:pathology; D009136:Muscular Dystrophies / Q000188:drug therapy* / Q000235:genetics / Q000378:metabolism*; D017354:Point Mutation; D011241:Prednisone / Q000008:administration & dosage*; D049031:Sarcoglycans; D013601:T-Lymphocytes / Q000276:immunology
D000893:Anti-Inflammatory Agents; D000906:Antibodies; D003598:Cytoskeletal Proteins; D016189:Dystrophin; D007136:Immunoglobulins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans; D011241:Prednisone