An observational longitudinal study of congenital myasthenic syndromes

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders Pub Date : 2025-09-01 DOI:10.1016/j.nmd.2025.106209

Hayley Ramjattan , Leighann Henehan , Sithara Ramdas , Jacqueline Palace

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引用次数: 0

Abstract

Congenital Myasthenic Syndromes (CMS) are a group of inherited disorders characterised by fatigable muscle weakness. There are currently no validated outcome measures in CMS. We conducted a prospective exploratory observational study in 49 CMS patients. The primary aim was to explore relevant and reliable outcome measures for assessing and monitoring change. Assessments included Quantitative Myasthenia Gravis score, Myasthenia Gravis Activities of Daily Living, six-minute-walk-test and sit to stand in one minute, in addition to others. Patients were seen 2–4 times over a 2-year period. Median age was 25.5 (range 1–72) years. Subtypes included AChR-deficiency (n = 15), AGRN-DOK7 clustering complex (n = 15), RAPSN (n = 6), COLQ (n = 5), others (n = 8). Ptosis was highest in AChR-deficiency and limb fatigue was highest in AGRN-DOK7 and COLQ. Median sit to stand in one minute was 22 (range 6–45), median total distance walked in six-minute-walk-test was 434 metres (range 0–711 m). A correlation was noted between sit to stand and six-minute-walk-test (R² = 0.291, p-value <0.001) and between total Quantitative Myasthenia Gravis and Myasthenia Gravis Activities of Daily Living scores (R² = 0.2851, p-value <0.001). This is the first study exploring the use of outcome measures in a CMS population, highlighting the variability in fatigue across CMS subtypes and the limitations of outcome measures validated in myasthenia gravis for CMS.

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先天性肌无力综合征的纵向观察研究

先天性肌无力综合征（CMS）是一组以疲劳性肌肉无力为特征的遗传性疾病。目前在CMS中没有有效的结果测量。我们对49例CMS患者进行了前瞻性探索性观察研究。主要目的是探索评估和监测变化的相关和可靠的结果措施。评估包括定量重症肌无力评分、重症肌无力日常生活活动、六分钟步行测试和一分钟坐立测试等。患者在2年的时间内见过2-4次。中位年龄为25.5岁（范围1-72岁）。亚型包括achr缺乏症（n = 15）、AGRN-DOK7聚类复合体（n = 15）、RAPSN （n = 6）、COLQ （n = 5）和其他（n = 8）。achr缺乏症患者上睑下垂最多，而agn - dok7和COLQ患者下肢疲劳最多。一分钟内从坐到站的中位数为22（范围6-45），六分钟步行测试中总步行距离的中位数为434米（范围0-711米）。坐转站和6分钟步行测试之间存在相关性（R²= 0.291，p值<；0.001），重症肌无力定量总分和重症肌无力日常生活活动总分之间存在相关性（R²= 0.2851，p值<；0.001）。这是首个探索在CMS人群中使用结果测量的研究，强调了不同CMS亚型之间疲劳的可变性，以及在CMS重症肌无力中验证的结果测量的局限性。

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

Neuromuscular Disorders 医学-临床神经学

CiteScore

4.60

自引率

3.60%

发文量

543

审稿时长

53 days

期刊介绍： This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). The Editors welcome original articles from all areas of the field: • Clinical aspects, such as new clinical entities, case studies of interest, treatment, management and rehabilitation (including biomechanics, orthotic design and surgery). • Basic scientific studies of relevance to the clinical syndromes, including advances in the fields of molecular biology and genetics. • Studies of animal models relevant to the human diseases. The journal is aimed at a wide range of clinicians, pathologists, associated paramedical professionals and clinical and basic scientists with an interest in the study of neuromuscular disorders.