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.

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?
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.