肌无力综合征：误以为遗传为后天。

IF 2.3 Q2 CLINICAL NEUROLOGY

PRACTICAL NEUROLOGY Pub Date : 2025-07-22 DOI:10.1136/pn-2025-004528

Leighann Henehan, Elena Rossini, Isobel Sarah Platt, Yin Yao Dong, David Beeson, Geraint N Fuller, Maria Isabel Leite, Jacqueline Palace

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引用次数: 0

摘要

先天性肌无力综合征（CMS）是一种罕见的异质性疾病，由编码神经肌肉传递所需蛋白质的基因的致病性变异引起。DOK7变异是CMS最常见的原因之一，也是吡哆斯的明可能恶化的亚型之一。我们报告了两例在成年期表现为疲劳性肢带无力的患者，最初诊断为血清阴性重症肌无力，尽管治疗不断升级，但随着时间的推移进展缓慢，最终需要重症监护。回顾病史，诊断为DOK7 CMS。在停用免疫抑制剂和吡哆斯的明并开始使用沙丁胺醇后，两例患者均有所改善。这些病例强调了在血清阴性重症肌无力患者中考虑CMS的重要性。

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Myasthenic syndromes: mistaking genetic for acquired.

Congenital myasthenic syndromes (CMS) are a rare, heterogeneous group of disorders caused by pathogenic variants in genes encoding proteins essential for neuromuscular transmission. DOK7 variants are among the most common causes of CMS and one of the subtypes that may worsen with pyridostigmine. We report two patients who presented in adulthood with fatigable limb girdle weakness, initially diagnosed with seronegative myasthenia gravis, who slowly progressed over time despite escalating treatment and eventually needed intensive care admission. Revisiting the history led to the diagnosis of DOK7 CMS. Both patients improved after stopping immunosuppressants and pyridostigmine and starting salbutamol. These cases highlight the importance of considering CMS in patients with seronegative myasthenia gravis.

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来源期刊

PRACTICAL NEUROLOGY Medicine-Neurology (clinical)

CiteScore

3.70

自引率

3.60%

发文量

113

期刊介绍： The essential point of Practical Neurology is that it is practical in the sense of being useful for everyone who sees neurological patients and who wants to keep up to date, and safe, in managing them. In other words this is a journal for jobbing neurologists - which most of us are for at least part of our time - who plough through the tension headaches and funny turns week in and week out. Primary research literature potentially relevant to routine clinical practice is far too much for any neurologist to read, let alone understand, critically appraise and assimilate. Therefore, if research is to influence clinical practice appropriately and quickly it has to be digested and provided to neurologists in an informative and convenient way.