萎缩性肌强直四家系的临床及电生理表现

Clinical and Electrophysiological Features in 4 Families with Myotonic Dystrophy

对患有萎缩性肌强直(MD)的4个家系的20名成员进行了临床及电生理调查研究。发现MD患者15人,千均发生率为75％,其中7例仪表现为电肌强直(EMD),而无其它临床症候,占无症状家族成员的58.3％。先证者的亲代4名病人均为亚临床患者,而先证者及同胞则更多地表现为具有临床症状的(CMD)患者,母系遗传占优势。无沦CMD还是EMD,肌强直放电主要发生在上肢的远端肌,尤其是拇短展肌。发现大部分病人正中神经传导速度减慢,SEP异常主要见于伴有周围神经损害的CMD者。

Clinical and electrophysiological investigations were made in 20 members from 4 myotonic dystrophy (MD) families. MD was confirmed in 15 persons among them , clinically, electrophysiologically or both. The mean incidence was estimated to be 75 percent. Only 7 cases of them presented electrophysiological evidences of myotonia without any clinical symptoms attributable to MD. The 7 subclinical cases comprised 58.3 % of the relatives previously believed to be unaffected. Four MD Cases were found in the past generation of the probands.all of them were subclinical cases. It was showed a dominantly ma-troclinous ingeritance type, in either clinical or electrical MD Patients. Electrophysiologically, myotonic discharges were prominent in distal muscles of the upper limbs, especially in abductor pollicis brevis muscles. A decrement of median nerve conductive velocity were found in most patients. Somatosensory evoked potential (SEP) abnormalities were mainly found in MD patients who also had electrophysiological impairment in periphereal nerves.