Patient-Reported Symptom Burden of Charcot-Marie-Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study.

Q3 Medicine Journal of Clinical Neuromuscular Disease Pub Date : 2022-09-01 DOI:10.1097/CND.0000000000000426

Florian P Thomas, Mario A Saporta, Shahram Attarian, Teresa Sevilla, Rafael Sivera, Gian M Fabrizi, Filippo Genovese, Amy J Gray, Simon Bull, Daniel Tanesse, Manuel Rego, Allison Moore, Courtney Hollett, Xavier Paoli, Thomas Sénéchal, Laura Day, Chengyu Ouyang, Samuel Llewellyn, Mark Larkin, Youcef Boutalbi

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引用次数: 1

Abstract

Objectives: This study aims to explore the impact of Charcot-Marie-Tooth disease type 1A (CMT1A) and its treatment on patients in European (France, Germany, Italy, Spain, and the United Kingdom) and US real-world practice.

Methods: Adults with CMT1A (n = 937) were recruited to an ongoing observational study exploring the impact of CMT. Data were collected via CMT&Me, an app through which participants completed patient-reported outcome measures.

Results: Symptoms ranked with highest importance were weakness in the extremities, difficulty in walking, and fatigue. Almost half of participants experienced a worsening of symptom severity since diagnosis. Anxiety and depression were each reported by over one-third of participants. Use of rehabilitative interventions, medications, and orthotics/walking aids was high.

Conclusions: Patient-reported burden of CMT1A is high, influenced by difficulties in using limbs, fatigue, pain, and impaired quality of life. Burden severity appears to differ across the population, possibly driven by differences in rehabilitative and prescription-based interventions, and country-specific health care variability.

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1A型腓骨肌痛患者报告的症状负担:来自一项观察性数字生活方式研究的发现

目的:本研究旨在探讨1A型沙科-玛丽-图斯病(CMT1A)及其治疗对欧洲(法国、德国、意大利、西班牙和英国)和美国患者的影响。方法:招募患有CMT1A的成人(n = 937)参加一项正在进行的观察性研究，探讨CMT的影响。数据通过CMT&Me收集，这是一款应用程序，参与者通过该应用程序完成患者报告的结果测量。结果:最重要的症状是四肢无力、行走困难和疲劳。几乎一半的参与者经历了自诊断以来症状严重程度的恶化。超过三分之一的参与者分别报告了焦虑和抑郁。康复干预、药物和矫形器/助行器的使用率很高。结论:患者报告的CMT1A负担高，受肢体使用困难、疲劳、疼痛和生活质量受损的影响。不同人群的负担严重程度似乎有所不同，这可能是由于康复和处方干预措施的差异以及各国具体的卫生保健差异所致。

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来源期刊

Journal of Clinical Neuromuscular Disease Medicine-Medicine (all)

CiteScore

1.60

自引率

0.00%

发文量

期刊介绍： Journal of Clinical Neuromuscular Disease provides original articles of interest to physicians who treat patients with neuromuscular diseases, including disorders of the motor neuron, peripheral nerves, neuromuscular junction, muscle, and autonomic nervous system. Each issue highlights the most advanced and successful approaches to diagnosis, functional assessment, surgical intervention, pharmacologic treatment, rehabilitation, and more.