Bogdan Bjelica, Camilla Wohnrade, Alma Osmanovic, Olivia Schreiber-Katz, Ramona Schuppner, Stephan Greten, Susanne Petri
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MetS was present in 25.0%. The most common component of MetS was central obesity (69.7%). Nearly half of the SMA individuals exhibited at least one abnormal lipid level result. Individuals with MetS more frequently were SMA type 3 (77.8% vs. 37.0%, p = .02) and had higher levels of fatigue (48.4 ± 6.7 vs. 39.5 ± 11.6, p = .03) than those without MetS. No associations of the presence of MetS with ambulatory status or HFMSE/RULM scores were observed. SMA individuals with MetS scored significantly lower in mental and social domains of QoL and total SF-36 score (p = .04). We observed weak to moderate correlations between the presence of MetS and SMA type, presence of comorbidities, QoL, and fatigue.</p><p><strong>Discussion: </strong>The frequency of MetS was modestly higher among adults with SMA than in the general population, particularly in SMA type 3. MetS was associated with reduced QoL and increased fatigue. Larger studies are needed to fully understand the significance of MetS in adults with SMA.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":null,"pages":null},"PeriodicalIF":2.8000,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Metabolic syndrome is common in adults with 5q-spinal muscular atrophy and impacts quality of life and fatigue.\",\"authors\":\"Bogdan Bjelica, Camilla Wohnrade, Alma Osmanovic, Olivia Schreiber-Katz, Ramona Schuppner, Stephan Greten, Susanne Petri\",\"doi\":\"10.1002/mus.28183\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction/aims: </strong>Spinal muscular atrophy (SMA) is a multisystem disorder. We assessed metabolic syndrome (MetS) prevalence in adults with SMA and its association with motor function, quality of life (QoL), fatigue, and depression.</p><p><strong>Methods: </strong>MetS was diagnosed using 2009 consensus criteria. Hammersmith Functional Motor Scale Expanded (HFMSE), Revised Upper Limb Module (RULM), Fatigue Severity Scale (FSS), Beck Depression Inventory (BDI), and 36-Item Short Form Health Survey (SF-36) were recorded and correlations between muscle function, depression, fatigue, QoL, and MetS were analyzed.</p><p><strong>Results: </strong>We included 36 individuals (18 males; mean age: 38.7 ± 14.6 years). MetS was present in 25.0%. The most common component of MetS was central obesity (69.7%). Nearly half of the SMA individuals exhibited at least one abnormal lipid level result. Individuals with MetS more frequently were SMA type 3 (77.8% vs. 37.0%, p = .02) and had higher levels of fatigue (48.4 ± 6.7 vs. 39.5 ± 11.6, p = .03) than those without MetS. No associations of the presence of MetS with ambulatory status or HFMSE/RULM scores were observed. SMA individuals with MetS scored significantly lower in mental and social domains of QoL and total SF-36 score (p = .04). We observed weak to moderate correlations between the presence of MetS and SMA type, presence of comorbidities, QoL, and fatigue.</p><p><strong>Discussion: </strong>The frequency of MetS was modestly higher among adults with SMA than in the general population, particularly in SMA type 3. MetS was associated with reduced QoL and increased fatigue. Larger studies are needed to fully understand the significance of MetS in adults with SMA.</p>\",\"PeriodicalId\":18968,\"journal\":{\"name\":\"Muscle & Nerve\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.8000,\"publicationDate\":\"2024-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Muscle & Nerve\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/mus.28183\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/6/14 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Muscle & Nerve","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/mus.28183","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/6/14 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
摘要
导言/目的:脊髓性肌萎缩症(SMA)是一种多系统疾病。我们评估了代谢综合征(MetS)在成年 SMA 患者中的患病率及其与运动功能、生活质量(QoL)、疲劳和抑郁的关系:代谢综合征采用 2009 年共识标准进行诊断。记录哈默史密斯功能运动量表扩展版(HFMSE)、修订版上肢模块(RULM)、疲劳严重程度量表(FSS)、贝克抑郁量表(BDI)和 36 项简表健康调查(SF-36),并分析肌肉功能、抑郁、疲劳、QoL 和 MetS 之间的相关性:我们共纳入了 36 名患者(18 名男性;平均年龄:38.7 ± 14.6 岁)。25.0%的人患有 MetS。MetS 中最常见的成分是中心性肥胖(69.7%)。近一半的 SMA 患者至少有一项血脂水平异常。与没有 MetS 的人相比,有 MetS 的人更多属于 SMA 3 型(77.8% 对 37.0%,p = .02),疲劳程度更高(48.4 ± 6.7 对 39.5 ± 11.6,p = .03)。没有观察到 MetS 与行动状况或 HFMSE/RULM 评分有任何关联。患有 MetS 的 SMA 患者在 QoL 的精神和社会领域以及 SF-36 总分方面的得分明显较低(p = .04)。我们观察到,MetS的存在与SMA类型、合并症的存在、QoL和疲劳之间存在弱到中等程度的相关性:讨论:MetS在成人SMA患者中的发生率略高于普通人群,尤其是在SMA 3型患者中。MetS 与 QoL 降低和疲劳增加有关。要充分了解 MetS 对成人 SMA 患者的意义,还需要进行更大规模的研究。
Metabolic syndrome is common in adults with 5q-spinal muscular atrophy and impacts quality of life and fatigue.
Introduction/aims: Spinal muscular atrophy (SMA) is a multisystem disorder. We assessed metabolic syndrome (MetS) prevalence in adults with SMA and its association with motor function, quality of life (QoL), fatigue, and depression.
Methods: MetS was diagnosed using 2009 consensus criteria. Hammersmith Functional Motor Scale Expanded (HFMSE), Revised Upper Limb Module (RULM), Fatigue Severity Scale (FSS), Beck Depression Inventory (BDI), and 36-Item Short Form Health Survey (SF-36) were recorded and correlations between muscle function, depression, fatigue, QoL, and MetS were analyzed.
Results: We included 36 individuals (18 males; mean age: 38.7 ± 14.6 years). MetS was present in 25.0%. The most common component of MetS was central obesity (69.7%). Nearly half of the SMA individuals exhibited at least one abnormal lipid level result. Individuals with MetS more frequently were SMA type 3 (77.8% vs. 37.0%, p = .02) and had higher levels of fatigue (48.4 ± 6.7 vs. 39.5 ± 11.6, p = .03) than those without MetS. No associations of the presence of MetS with ambulatory status or HFMSE/RULM scores were observed. SMA individuals with MetS scored significantly lower in mental and social domains of QoL and total SF-36 score (p = .04). We observed weak to moderate correlations between the presence of MetS and SMA type, presence of comorbidities, QoL, and fatigue.
Discussion: The frequency of MetS was modestly higher among adults with SMA than in the general population, particularly in SMA type 3. MetS was associated with reduced QoL and increased fatigue. Larger studies are needed to fully understand the significance of MetS in adults with SMA.
期刊介绍:
Muscle & Nerve is an international and interdisciplinary publication of original contributions, in both health and disease, concerning studies of the muscle, the neuromuscular junction, the peripheral motor, sensory and autonomic neurons, and the central nervous system where the behavior of the peripheral nervous system is clarified. Appearing monthly, Muscle & Nerve publishes clinical studies and clinically relevant research reports in the fields of anatomy, biochemistry, cell biology, electrophysiology and electrodiagnosis, epidemiology, genetics, immunology, pathology, pharmacology, physiology, toxicology, and virology. The Journal welcomes articles and reports on basic clinical electrophysiology and electrodiagnosis. We expedite some papers dealing with timely topics to keep up with the fast-moving pace of science, based on the referees'' recommendation.