[Cardiomyopathy and rapidly developing proximal myotonic amyotrophy in an athlete (author's transl)].
The authors report the clinical history of a young athlete who, without any notable family antecedents, developed cardiomyopathy followed by proximal anyotrophy at the age of 24 years. The electromyogram revealed frequent myotonic salves and a typically myogenic tracing. The autopsy showed substantial generalized cardiac enlargement and marked atrophy of the muscle fibres in the girdles, together with grouping of the nuclei into hyperchromatic clusters. The reported case thus shows some characteristics of Steinet's disease and others of non-dystrophic myotonia (Becker, 1964) but cannot be classified as either of these diseases.
D000328:Adult; D009202:Cardiomyopathies / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009223:Myotonic Dystrophy / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D013178:Sports Medicine; D013577:Syndrome
Cardiomyopathie et amyotrophie myotonique proximale d'évolution rapide chez un athlète