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本文报道一组常染色体显性遗传疾病,认为系非典型强直性肌营养不良(DM),这些病人具有DM的特征,如肌强直,白内障,秃发,心脏传导阻滞和睾丸萎缩;但是也有一些DM不具备的特征,如近端肌无力而非远端肌无力,也无肌肥大。作者报道14个家系35个病人,11个家系呈常染色体显性遗传,3个家系受累病人呈散发性,但由于家族成员死亡或能调查,也不排除显性遗传的可能性。27例病人接受神经系统检查和肌电图,肌活检及DNA分析。结果21例下肢近端肌无力,23例EMG示肌强直,17例呈间歇性肌强直,24例白内障而且11人都无明显肌
This article reports a group of autosomal dominant genetic disorders that are considered atypical myotonic dystrophy (DM). These patients have characteristics of DM such as myotonia, cataract, alopecia, heart block, and testicular atrophy; however, there are also Some DM does not have the features, such as the proximal muscle weakness rather than distal muscle weakness, no muscle hypertrophy. The authors reported 35 patients in 14 families and 11 pedigrees with autosomal dominant inheritance. Three affected families were sporadic, but the possibility of dominance was not ruled out either because family members died or could be investigated. Twenty-seven patients underwent neurological examination and electromyography, muscle biopsy and DNA analysis. Results 21 cases of proximal lower extremity muscle weakness, 23 cases of EMG showed muscle rigidity, 17 cases were intermittent myotonia, 24 cases of cataract and 11 were no obvious muscle