伴随对接蛋白7突变的终生类固醇反应性家族性肌病。

Q3 Medicine

Journal of Clinical Neuromuscular Disease Pub Date : 2022-12-01 DOI:10.1097/CND.0000000000000398

Shin J Oh, Peter H King, Alice Schindler

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引用次数: 2

摘要

对接蛋白7 (DOK7)先天性肌无力综合征(CMS)的特征是四肢无力和缺乏波动性疲劳，类似于许多家族性肌病。鉴于持续改善，沙丁胺醇是第一线治疗。两名进行性二头肌无力1-3年的兄弟对强的松治疗40-50年有反应。包括肌肉活检和许多实验室研究在内的各种研究都没有得到明确的诊断。初步评估后40年的基因研究证实了DOK7 CMS的诊断。这是首次报道的与皮质类固醇持续获益相关的DOK7 CMS病例。

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Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation.

Abstract: Docking protein 7 (DOK7) congenital myasthenic syndrome (CMS) is characterized by limb-girdle weakness and lack of fluctuating fatigability simulating many familial myopathies. Albuterol is the first line of therapy in view of consistent improvement. Two brothers with progressive predominant biceps weakness for 1-3 years responded to prednisone treatment for 40-50 years. Various studies including muscle biopsy and many laboratory studies were unsuccessful for the definite diagnosis. Gene study, 40 years after the initial evaluation, confirmed the diagnosis of DOK7 CMS. These are the first reported cases of DOK7 CMS associated with a sustained benefit from corticosteroids.

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来源期刊

Journal of Clinical Neuromuscular Disease Medicine-Medicine (all)

CiteScore

1.60

自引率

0.00%

发文量

期刊介绍： Journal of Clinical Neuromuscular Disease provides original articles of interest to physicians who treat patients with neuromuscular diseases, including disorders of the motor neuron, peripheral nerves, neuromuscular junction, muscle, and autonomic nervous system. Each issue highlights the most advanced and successful approaches to diagnosis, functional assessment, surgical intervention, pharmacologic treatment, rehabilitation, and more.