[Myotonic dystrophy].
Myotonic dystrophy (MD) is illustrated by a characteristic case report. MD is a dominantly inherited multi-organic disease with complete penetrance, but with highly variable expression illustrated by the near relatives of this patient. The disease usually follows a slow, progressive course. The cardinal symptoms are myotonia, muscle atrophia, cataract and a characteristic facial appearance. Cardial arrhythmias, endocrine and mental changes also occur. The liability to arrhythmias and the weakened respiratory muscles of the patients which lead to ventilatory insufficiency makes anesthesia and surgical operation risky. The diagnosis, which is made by electromyography, is easy in typical cases, but suspicion that the disease is present is seldom raised in very mild cases if there is no recognition of familial cases. Meticulous examination of near relatives of severe cases is therefore essential to take advantage of the possibilities of prenatal diagnosis recently made possible through developments in DNA technology.
Daugaard
D
D
Neurologisk afdeling N, Odense Sygehus.
Dalager
T
T
Dalhøj
J
J
D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D008297:Male; D009223:Myotonic Dystrophy / Q000175:diagnosis / Q000209:etiology / Q000628:therapy
Dystrophia myotonica.