[Frequency of 5q spinal muscular atrophy in adults with unspecified neuromuscular diseases].

Q3 Medicine

Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova Pub Date : 2026-01-01 DOI:10.17116/jnevro202612603168

A V Petrokovskaia, O V Gilvanova, D A Degterev, V D Tkachenko, V V Lebedev

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引用次数: 0

Abstract

Objective: To assess the prevalence of 5q spinal muscular atrophy (SMA) among adult patients with undifferentiated neuromuscular disorders.

Material and methods: Prospective study of 50 patients (19-78 years) presenting ≥1 feature of 5q SMA: areflexia, proximal weakness, fasciculations, neurogenic EMG changes, atrophy, calf hypertrophy, or elevated creatine kinase (CK). Molecular testing (MLPA/melting curve analysis of SMN1/SMN2) was performed.

Results: 5q SMA was confirmed in one female patient (2% [95% CI 0.05-10.6]), who was found to have a homozygous deletion of exons 7-8 in the SMN1 gene. Her clinical presentation included proximal lower limb weakness and neurogenic EMG changes, but she lacked areflexia and had normal CK levels. For 29 years, she had been misdiagnosed with «unspecified myopathy»(G72.9).

Conclusion: The findings highlight the need to include 5q SMA in the differential diagnosis of adult patients with undifferentiated neuromuscular disorders. Optimizing diagnostic algorithms and enhancing epidemiological monitoring in this age group are essential to reduce diagnostic delays.

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[成人未明确神经肌肉疾病中5q脊髓性肌萎缩的发生率]。

目的：评估成人未分化神经肌肉疾病患者中5q脊髓性肌萎缩症（SMA）的患病率。材料和方法：前瞻性研究50例患者（19-78岁），表现出≥1种5q SMA特征：反射性松弛、近端无力、束状带、神经源性肌电改变、萎缩、小腿肥大或肌酸激酶（CK）升高。进行分子检测（MLPA/熔化曲线分析）。结果：1例女性患者（2% [95% CI 0.05-10.6]）确诊5q SMA，发现SMN1基因7-8外显子纯合缺失。她的临床表现包括下肢近端无力和神经源性肌电图改变，但她缺乏反射性松弛，CK水平正常。29年来，她一直被误诊为“不明肌病”（G72.9）。结论：研究结果强调了在未分化神经肌肉疾病成年患者的鉴别诊断中纳入5q SMA的必要性。优化诊断算法和加强这一年龄组的流行病学监测对于减少诊断延误至关重要。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova 医学-精神病学

CiteScore

1.10

自引率

0.00%

发文量

287

审稿时长

3-6 weeks

期刊介绍： Одно из старейших медицинских изданий России, основанное в 1901 году. Создание журнала связано с именами выдающихся деятелей отечественной медицины, вошедших в историю мировой психиатрии и неврологии, – С.С. Корсакова и А.Я. Кожевникова. Широкий диапазон предлагаемых журналом материалов и разнообразие форм их представления привлекают внимание научных работников и врачей, опытных и начинающих медиков, причем не только неврологов и психиатров, но и специалистов смежных областей медицины.