Congenital muscular dystrophy: a clinicopathologic report of 24 cases.
Congenital muscular dystrophy (muscular dystrophy presenting from birth) with a wide spectrum of clinical severity is reported in 24 patients. Progression of symptoms was evident, leading to significant motor handicap in all patients and death in eight cases. Muscle enzyme studies did not always correlate with the severity of the disease. In six cases, initial muscle biopsy showed only minimal, nonspecific abnormalities; however, characteristic dystrophic changes were evident on repeat biopsies. Histochemical and electron microscopic studies did not show consistent changes, except type I predominance in a few cases. Evidently the condition is rarely, if ever, benign and the clinical course cannot be predicted from the initial presentation or early pathologic findings. Clinical, laboratory and pathologic characteristics are outlined for the diagnosis of this disorder.
D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D003402:Creatine Kinase / Q000378:metabolism; D004576:Electromyography; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009132:Muscles / Q000201:enzymology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000151:congenital* / Q000473:pathology / Q000503:physiopathology; D009431:Neural Conduction
D003402:Creatine Kinase