THE ETIOLOGY and pathogenesis of childhood x-linked pseudohypertrophic muscular dystrophy ("Duchenne dystrophy") remains obscure, even though the histopathology and clinical picture were described by Duchenne1 in 1868, and Erb2 formalized the concept of a primary dystrophic disease of muscle in 1891. Meryon3 in 1864 suggested that it may be "... an idiopathic disease of the muscle, dependent perhaps on defective nutrition." Recent emphasis has centered on multiple possibilities, including a metabolic defect intrinsic to the muscle fiber or muscle-fiber membrane,4-7 a functional vascular abnormality,8-11 an autoimmune process,12 an abnormal circulating serum factor,13 an endocrine abnormality,10,14,15 and a primary defect involving connectivetissue proliferation.16
The earliest histological changes seen in minimally weak, or even clinically normal, muscles of patients with Duchenne muscular dystrophy are small foci of grouped muscle fibers undergoing necrosis or regeneration, all fibers of the group being in about the
Hathaway PW, Engel WK, Zellweger H. Experimental Myopathy After Microarterial Embolization: Comparison With Childhood X-Linked Pseudohypertrophic Muscular Dystrophy. Arch Neurol. 1970;22(4):365–378. doi:10.1001/archneur.1970.00480220079011
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: