中国循证儿科杂志2011，Vol.6Issue(6)：449-452,4.DOI:10.3969/j.issn.1673-5501.2011.06.009
儿童常染色体显性遗传Emery-Dreifuss肌营养不良症1例并文献复习
Autosomal dominant Emery-Dreifuss muscular dystrophy: one case report and literature review
伍妘 1张礼萍 1吕俊兰 1郑华 1吴沪生1
作者信息
- 1. 作者单位,首都医科大学附属北京儿童医院神经内科与康复中心,儿科学国家重点学科,北京,100045
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摘要
Abstract
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.关键词
Emery-Dreifuss肌营养不良/肌萎缩/关节挛缩/LMNA基因分析Key words
Emery-Dreifuss muscular dystrophy/ Muscle wasting/ Joint-contractures/ LMNA gene analysis引用本文复制引用
伍妘,张礼萍,吕俊兰,郑华,吴沪生..儿童常染色体显性遗传Emery-Dreifuss肌营养不良症1例并文献复习[J].中国循证儿科杂志,2011,6(6):449-452,4.
