Daugaard D, Dalager T, Dalhøj J
Neurologisk afdeling N, Odense Sygehus.
Ugeskr Laeger. 1991 Aug 19;153(34):2345-8.
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.
强直性肌营养不良（MD）通过一个典型病例报告来说明。MD是一种显性遗传的多器官疾病，具有完全外显率，但该患者的近亲表现出高度可变的表达。该病通常呈缓慢、进行性病程。主要症状为肌强直、肌肉萎缩、白内障和特征性面容。还会出现心律失常、内分泌和精神变化。患者心律失常的易感性以及导致通气不足的呼吸肌无力使得麻醉和手术具有风险。通过肌电图进行诊断，在典型病例中很容易，但在非常轻微的病例中，如果没有认识到家族性病例，很少会怀疑该病的存在。因此，对重症病例的近亲进行细致检查对于利用最近通过DNA技术发展实现的产前诊断可能性至关重要。
