Diagnoses of muscular dystrophy in a veterans health system.

IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY
Muscle & Nerve Pub Date : 2024-08-01 Epub Date: 2024-05-23 DOI:10.1002/mus.28112
Carla D Zingariello, Yara Mohamed, Magali Jorand-Fletcher, James Wymer, Peter B Kang, Sonja A Rasmussen
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Abstract

Introduction/aims: Early diagnosis of a chronic neuromuscular disease such as muscular dystrophy (MD) generally excludes an individual from active-duty military service. However, it is not known whether veterans are sometimes diagnosed with milder forms of MD at a later timepoint. We aimed to determine the prevalence of MD in a veterans health system.

Methods: We abstracted clinical and genetic test data on patients who received care for a diagnosis of MD at the North Florida/South Georgia Veterans Health System between 2008 and 2021. We then determined which of these individuals would meet criteria for a definite diagnosis of MD, based on electrodiagnostic testing, muscle biopsy, and genetic testing of the individual or an affected first degree relative.

Results: We identified 12 patients with definite MD and 36 with possible or probable MD. The definite cases included myotonic dystrophy type 1 (4), myotonic dystrophy type 2 (3), oculopharyngeal MD (2), Becker MD (1), distal MD (1), and facioscapulohumeral MD (1). At least five of the cases classified as definite developed symptoms after discharge from active duty.

Discussion: Clinicians who care for veterans should be knowledgeable about, and have access to, diagnostic testing and treatment options for MD. When conducting MD surveillance, it is important to include veterans health systems as a data source. Mild cases of MD and those of later onset appear to be compatible in some cases with successful completion of military service.

退伍军人医疗系统对肌肉萎缩症的诊断。
导言/目的:肌肉萎缩症(MD)等慢性神经肌肉疾病的早期诊断通常会将患者排除在现役军人之外。然而,退伍军人是否有时会在较晚的时间点被诊断出患有较轻的肌肉萎缩症,目前尚不清楚。我们旨在确定 MD 在退伍军人医疗系统中的患病率:我们摘录了 2008 年至 2021 年期间在北佛罗里达州/南佐治亚州退伍军人医疗系统接受 MD 诊断治疗的患者的临床和基因检测数据。然后,我们根据电诊断测试、肌肉活检以及个人或受影响一级亲属的基因测试结果,确定这些患者中哪些人符合明确诊断 MD 的标准:我们确定了 12 名确诊 MD 患者和 36 名可能或疑似 MD 患者。确诊病例包括肌营养不良症 1 型(4 例)、肌营养不良症 2 型(3 例)、眼咽肌营养不良症(2 例)、贝克尔肌营养不良症(1 例)、远端肌营养不良症(1 例)和面胛肱肌营养不良症(1 例)。至少有五例被归类为确诊病例是在退役后出现症状的:讨论:为退伍军人提供护理的临床医生应了解并掌握 MD 的诊断测试和治疗方案。在进行MD监测时,将退伍军人健康系统作为数据来源非常重要。轻微的 MD 病例和晚期发病的 MD 病例在某些情况下似乎与成功服完兵役相符。
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来源期刊
Muscle & Nerve
Muscle & Nerve 医学-临床神经学
CiteScore
6.40
自引率
5.90%
发文量
287
审稿时长
3-6 weeks
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.
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