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.
Connolly
A M
AM
Department of Neurology, Washington University School of Medicine, St. Louis Children's Hospital, Missouri 63110, USA.
Pestronk
A
A
Mehta
S
S
Al-Lozi
M
M
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