Signs and symptoms of carriers of non-DMD X-linked neuromuscular diseases: A scoping review.

IF 3.2 4区医学 Q2 CLINICAL NEUROLOGY

Journal of neuromuscular diseases Pub Date : 2025-03-29 DOI:10.1177/22143602251330441

Job Simons, Amanda Dekker, Rosanne Govaarts, Anna Sarkozy, Christian Windpassinger, Saskia Houwen, Nicol Voermans

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引用次数: 0

Abstract

Background: It has been known for long that females carrying pathogenic variants in the DMD gene often report symptoms and/or exhibit signs of the disease. However, a notable knowledge gap exists concerning the signs and symptoms of female carriers of other X-linked neuromuscular diseases (XLNMDs).

Objective: This scoping review aims to provide a comprehensive outline of existing literature regarding the signs and symptoms of carriers of non-DMD XLNMDs to raise awareness among both researchers and clinicians.

Methods: Three electronic databases were used for the literature search (PubMed, Embase, Web of Science). Studies on the signs and symptoms of carriers of non-DMD XLNMDs were included.

Results: We included 44 articles for this review with a total of 354 carriers of non-DMD XLNMDs (mean age 43.9 years, std. deviation 17.4). Muscular signs and symptoms were reported for 125 carriers (X-linked myotubular myopathy (XLMTM): n = 96 (65%); Kennedy's disease (KD): n = 25 (32%); X-linked recessive Charcot-Marie-Tooth disease (CMTXR): n = 2 (15%); Uruguay faciocardiomusculoskeletal syndrome (FCMSU): n = 1 (33%); Barth syndrome (BS): n = 1 (100%)). In terms of ancillary investigations, abnormalities in histopathology and imaging were the most frequent with 44 carriers having abnormalities found by these testing (XLMTM: n = 36 (24%); Emery-Dreifuss muscular dystrophy 1 (EDMD1): n = 4 (5%); KD: n = 4 (5%) / XLMTM: n = 18 (12%); EDMD1: n = 1 (1%); KD: n = 5 (6%); X-linked myopathy with postural muscle atrophy (XMPMA): n = 19 (83%); BS: n = 1 (100%)). A difference between the number of EDMD1 carriers with cardiovascular signs and symptoms (n = 2 (1%)) and the number of carriers with abnormal electrocardiography tests (n = 20 (23%)) was also noted.

Conclusion: Carriers of non-DMD XLNMDs exhibit a variety of signs and symptoms that could impact quality of life, making it vital for clinicians to be aware of these patients.

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背景：众所周知，携带 DMD 基因致病变体的女性通常会出现该疾病的症状和/或体征。然而，关于其他 X 连锁神经肌肉疾病（XLNMD）女性携带者的体征和症状，还存在明显的知识空白：本综述旨在全面概述有关非多发性硬化症 XLNMDs 携带者体征和症状的现有文献，以提高研究人员和临床医生的认识：文献检索使用了三个电子数据库（PubMed、Embase、Web of Science）。方法：使用三个电子数据库（PubM、Embed、Web Science）进行文献检索，纳入有关非多发性硬化症 XLNMD 携带者体征和症状的研究：本综述共纳入 44 篇文章，涉及 354 名非多发性硬化症 XLNMD 携带者（平均年龄 43.9 岁，标准偏差 17.4）。125名携带者出现了肌肉体征和症状（X连锁肌管肌病 (XLMTM)：n = 96 (65%)；肯尼迪病 (KD)：n = 25 (32%)；X连锁隐性夏科-玛丽-牙病 (CMTXR)：n = 2 (15%)；乌拉圭面肌肌骨骼综合征 (FCMSU)：n = 1 (33%)；巴特综合征 (BS)：n = 1 (100%)）。在辅助检查方面，组织病理学和影像学异常最为常见，有 44 名携带者在这些检查中发现异常（XLMTM：n = 36 (24%)；Emery-Dreifuss 肌营养不良 1 (EDMD1)：n = 4 (5%)；KD：n = 4 (5%)/XLMTM：n = 18 (12%)；EDMD1：n = 1 (1%)；KD：n = 5 (6%)；X-连锁肌病伴姿势性肌肉萎缩 (XMPMA)：n = 19 (83%)；BS：n = 1 (100%)）。此外，还发现有心血管症状和体征的 EDMD1 携带者人数（n = 2 (1%)）与心电图测试异常的携带者人数（n = 20 (23%)）之间存在差异：结论：非多发性硬化症 XLNMD 携带者会表现出各种体征和症状，这些体征和症状可能会影响生活质量，因此临床医生必须注意这些患者。

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

Journal of neuromuscular diseases Medicine-Neurology (clinical)

CiteScore

5.10

自引率

6.10%

发文量

102

期刊介绍： The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). The journal publishes research reports, reviews, short communications, letters-to-the-editor, and will consider research that has negative findings. The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases.