Objective To study the characteristics and diagnosis of autosomal dominant Emery-Dreifuss muscular dystrophy. Methods The clinical characteristics, diagnosis procedures and histopathological studies of a case with autosomal dominant Emery-Dreifuss muscular dystrophy were analyzed, and genetic analysis was used in the diagnosis of the illness, and the case was reported along with related literature review. Results The patient was a 12 years old girl who showed progressive proximal weakness of all four limbs, rigid spine, remarkable bilateral contractures of Achilles tendons and elbow, as well as slightly increased serum muscle enzymes. Electromyography indicated myogenic change and normal nerve conduction velocities. The pathological changes in muscles showed that the sizes of muscle fibers were different, fiber atrophy and hypertrophy alternately existed, compensatory hypertrophy of partial muscle fibers existed and fat and connective tissue proliferations were apparent. Sequencing of all 12 coding exons of the LMNA gene revealed a c. 746G > A mutation in exon 4, in heterozygous state. It was a missense mutation and resulted in an amino-acid change, p. Arg249Gln. Conclusions Currently, genetic analysis is a reliable method to confirm the diagnosis of autosomal dominant Emery-Dreifuss muscular dystrophy. This article suggests genetic analysis of the LMNA gene in a patient presenting with progressive, bilateral muscle weakness, and early contractures of the elbows. Achilles tendons or rigid spine may be valuable to the early diagnosis of the disease.%目的 提高对常染色体显性遗传Emery-Dreifuss 肌营养不良症(EDMD)的临床和分子生物学特点的认识.方法 总结1例EDMD患儿的临床表现、诊断、肌肉活检病理学和基因检测结果,并综合文献进行分析.结果 女性,12岁,表现为进行性四肢无力,近端为著,脊柱僵硬,伴明显的双侧跟腱、肘挛缩.血浆肌酶轻度升高.肌电图提示肌源性改变,运动和感觉神经传导速度正常.股四头肌活检病理学检查显示肌肉细胞大小不均,萎缩和肥大的纤维交替存在,部分肌纤维代偿性肥大,脂肪及结缔组织增生明显,符合肌营养不良的病理表现.基因检测发现LMNA基因外显子4的序列变异c.746G>A(p.Arg249Gln).结论 基因分析是确诊EDMD的最可靠方法.对进行性的、双侧对称的肌肉无力,并伴有肘关节、跟腱挛缩和脊柱僵硬的患儿应进行LMNA基因分析,有助于早期诊断EDMD.
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