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本文报告先天性肌强直(MyC)5个家系14例和强直性肌营养不良(MyD)5个家系21例。前者男10例,女14例,年龄8～32岁。后者男17例,女4例,年龄10～28岁。症状典型。MyC都有用力收缩时放松困难,叩击性肌强直,肌电图示强直电位。MyD则肌强直和萎缩并存,尚有脱发秃顶、近视、白内障、睾丸萎缩、心脏束支传导阻滞、甲状腺和肾上腺功能低下等多系统损害,肌电图示强直电位。2例肌活检示非特异性肌肉变性、萎缩,但行特殊染色示神经末梢和运动终板完好。本文着重讨论了遗传方式、诊断要点及肌肉活检的价值。
This article reports 14 cases of MyC in 5 families and 21 cases of MyD in 5 families. The former male 10 cases, 14 females, aged 8 to 32 years. The latter 17 males and 4 females, aged 10 to 28 years old. Typical symptoms. MyC have hard to relax contraction, tapping muscular rigidity, electromyogram shows tonic. MyD muscle stiffness and atrophy coexist, there are alopecia baldness, myopia, cataracts, testicular atrophy, cardiac bundle branch block, thyroid and adrenal dysfunction, and other multi-system damage, electromyography shows tetanic potential. Two cases of muscle biopsy showed non-specific muscle degeneration, atrophy, but the line shows a special stain of nerve endings and motor end plate intact. This article focuses on the genetic modalities, diagnostic points, and the value of muscle biopsy.