CASE 7

17 year-old male with slowly progressive weakness, proximal muscles and lower extremities. Severe spinal muscle contractures with scoliosis. CPK moderately elevated (2100) No family history of muscle disease.

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Immunohistochemistry for dystrophin (amino-terminus epitope). All antibodies against dystrophin showed normal membrane pattern staining, as did antibodies against alpha, beta, gamma, and delta sarcoglycans. Why are these normal results helpful in establishing a differential diagnosis?
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Trichrome stain. Fibrosis and fiber atrophy. (collagen-containing connective tissue) stains sky blue; muscle fibers are purple.

Diagnosis: Muscular Dystrophy, not further specified The normal staining for dystrophins indicates that this is not a dystrophinopathy (Duchenne's or Becker's Dystrophy). Normal sarcoglycan expression indicates that it is not one of 4 characterized Limb-Girdle Dystrophies. The clinical findings, especially the severe contractures, suggests a diagnosis of Emery-Dreyfus Muscular Dystrophy. See Alan E. H. Emery Emery»Dreifuss muscular dystrophy » a 40 year retrospective Neuromuscular Disorders 10:228-232 Review article This page created on a Macintosh using PhotoPage by John A. Vink.