[Familial case of myotonia with muscular hypertrophy, weakness corrected by effort and atrophy of type II fibers].
A 35 years old man has a non progressive muscle disease which appeared when he was 6. Clinically, there is a slight muscle hypertrophy, an important spontaneous myotonia and a curious muscle weakness, quite marked on the first efforts, but disappearing entirely after a few muscle contractions. The E.M.G. is normal but for the myotonic reaction. Muscle biopsy shows a selective atrophy of type II fibers. The disease is a genetic one, a sister and a brother of our patient having noticed the same symptom. The place of this disease among the congenital myotonias is discussed.
D000328:Adult; D006801:Humans; D006984:Hypertrophy; D008297:Male; D009119:Muscle Contraction; D009132:Muscles / Q000473:pathology* / Q000503:physiopathology; D009133:Muscular Atrophy / Q000473:pathology*; D009224:Myotonia Congenita / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005082:Physical Exertion
Observation familiale de myotonie avec hypertrophie musculaire, faiblesse corrigée par l'effort et atrophie des fibres de type II