携带接头蛋白 7 基因突变的终身激素反应性家族性肌病。
Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation.
机构信息
Department of Neurology, University of Alabama at Birmingham, Birmingham, AL; and.
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.
出版信息
J Clin Neuromuscul Dis. 2022 Dec 1;24(2):80-84. doi: 10.1097/CND.0000000000000398.
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.
Docking 蛋白 7 (DOK7) 先天性肌无力综合征 (CMS) 的特征是四肢无力，波动性疲劳缺失，类似于许多家族性肌病。鉴于持续改善，沙丁胺醇是一线治疗药物。两名兄弟均有进行性优势二头肌无力，持续 1-3 年，对泼尼松治疗反应良好，持续 40-50 年。包括肌肉活检和许多实验室研究在内的各种研究均未能做出明确诊断。基因研究在最初评估 40 年后证实了 DOK7 CMS 的诊断。这些是首例报道的 DOK7 CMS 病例，皮质类固醇治疗获益持续。
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