Primary α-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 qua...

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Bibliographic Details
Published in:Muscle & nerve 1998-11, Vol.21 (11), p.1549-1553
Main Authors: Connolly, Anne M., Pestronk, Alan, Mehta, Shobhna, Al-Lozi, Muhammed
Format: Article
Language:English
Subjects:
adhalin
Amino Acid Substitution
Anti-Inflammatory Agents - administration & dosage
Antibodies
Biological and medical sciences
Biopsy
Child
Cytoskeletal Proteins - deficiency
Cytoskeletal Proteins - genetics
Cytoskeletal Proteins - immunology
Diseases of striated muscles. Neuromuscular diseases
DNA Mutational Analysis
Duchenne muscular dystrophy
Dystrophin - analysis
Dystrophin - immunology
Female
Humans
Immunoglobulins - analysis
Immunosuppression
limb-girdle muscular dystrophy type 2D
Macrophages - immunology
Medical sciences
Membrane Glycoproteins - deficiency
Membrane Glycoproteins - genetics
Membrane Glycoproteins - immunology
Muscle, Skeletal - chemistry
Muscle, Skeletal - immunology
Muscle, Skeletal - pathology
Muscular Dystrophies - drug therapy
Muscular Dystrophies - genetics
Muscular Dystrophies - metabolism
Neurology
Point Mutation
polymyositis
Prednisone - administration & dosage
Sarcoglycans
T-Lymphocytes - immunology
α-sarcoglycan
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Summary: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 α‐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. © 1998 John Wiley & Sons, Inc. Muscle Nerve 21: 1549–1553, 1998
ISSN:0148-639X
1097-4598
DOI:10.1002/(SICI)1097-4598(199811)21:11<1549::AID-MUS30>3.0.CO;2-T