Steroid-responsive myopathy with deficient chondroitin sulfate C in skeletal muscle connective tissue.
A 71-year-old man developed severe limb, bulbar, and respiratory weakness over 18 months. A muscle biopsy showed only a moderate degree of type 2 atrophy, but immunocytochemistry showed absence of chondroitin sulfate C glycosaminoglycan in the endomysium. Prednisone produced a marked increase in strength. Diffuse loss of endomysial chondroitin sulfate C was a feature of this treatable myopathy with severe weakness, but few pathologic changes.
al-Lozi
M T
MT
Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Hemelt
V B
VB
Pestronk
A
A
D000368:Aged; D000690:Amyotrophic Lateral Sclerosis; D001284:Atrophy; D001706:Biopsy; D002809:Chondroitin Sulfates / Q000172:deficiency*; D003937:Diagnosis, Differential; D018737:Hand Strength; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology* / Q000503:physiopathology; D009135:Muscular Diseases / Q000175:diagnosis* / Q000188:drug therapy* / Q000473:pathology / Q000503:physiopathology; D011241:Prednisone / Q000627:therapeutic use*; D012016:Reference Values; D012038:Regeneration
D002809:Chondroitin Sulfates; D011241:Prednisone