Schellenberg Kerri L, Caspar-Bell Gudrun, Ellis Colin, Johnston Wendy, King Alexandra, King Malcolm, Korngut Lawrence, Kushneriuk Brendan, Lavoie Andrea J, McGonigle Reid, Newton Julia, O'Connell Colleen, Shoesmith Christen, Suchowersky Oksana, Warman-Chardon Jodi, Wunder Shane, Pfeffer Gerald
Division of Neurology (Schellenberg, Newton), Division of Endocrinology (Caspar-Bell), Division of Respirology, Critical Care, and Sleep Medicine (Ellis), Department of Medicine; Pewaseskwan Indigenous Health and Wellness (A. King, M. King); Department of Medicine (A. King), Community Health and Epidemiology (M. King), Physical Medicine and Rehabilitation (Kushneriuk, Wunder); Division of Cardiology, Department of Medicine (Lavoie); Department of Family Medicine (McGonigle), University of Saskatchewan, Saskatoon, Sask.; Division of Neurology, Department of Medicine (Johnston), University of Alberta, Edmonton, Alta.; Department of Clinical Neurosciences (Korngut, Pfeffer), University of Calgary, Calgary, Alta.; Dalhousie Medicine New Brunswick (O'Connell), Fredericton, NB; Division of Neurology, London Health Sciences Centre (Shoesmith), Western University, London, Ont.; Departments of Medicine (Neurology) and Medical Genetics (Suchowersky), University of Alberta, Edmonton, Alta.; Department of Medicine (Neurology), Ottawa Neuromuscular Centre (Warman-Chardon), University of Ottawa, Ottawa, Ont.
CMAJ. 2025 Sep 21;197(31):E987-E999. doi: 10.1503/cmaj.250180.
Although rare in the general population, spinal bulbar muscular atrophy (SBMA) is an X-linked recessive neuromuscular condition that is highly prevalent in people identifying as First Nations and Métis in western Canada. The aim of this guideline is to improve and standardize care of SBMA, and to increase awareness of the condition.
Our interdisciplinary working group conducted a needs assessment survey to aid in the development of guideline topic questions, followed by a literature search, evidence review, and external review by health practitioners and people with lived experience. We followed the ADAPTE framework to evaluate the only pre-existing SBMA guideline (2020 French national protocol) and the 2020 Canadian amyotrophic lateral sclerosis guideline for appropriateness of adaptation. Our process adhered to the Appraisal of Guidelines for Research and Evaluation (AGREE II) tool; used the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) approach; and followed the Guidelines International Network-McMaster Guideline Development Checklist. Indigenous community engagement was led by the Pewaseskwan Indigenous Research Group, who participated in the development of the guideline.
We developed 41 recommendations to address the continuum of care in SBMA, including diagnosis; multidisciplinary teams; management of limb and bulbar symptoms, respiratory and cardiac complications, and multisystem symptoms; female carriers; emotional supports; and considerations for Indigenous people. Spinal bulbar muscular atrophy is best managed by multidisciplinary teams that can address both its motor and nonmotor manifestations, including cardiac involvement, sensory symptoms, and metabolic dysfunction. Concerns for female carriers may include symptom management and genetic counselling. Providers should ensure culturally appropriate care for Indigenous people.
In this guideline, we provide health care professionals with a culturally responsive standard of care for SBMA, and hope this will translate into improved quality of life for people affected by SBMA.
脊髓延髓性肌萎缩症（SBMA）在普通人群中较为罕见，是一种X连锁隐性神经肌肉疾病，在加拿大西部自我认同为原住民和梅蒂斯人的人群中高度流行。本指南的目的是改善和规范SBMA的护理，并提高对该疾病的认识。
我们的跨学科工作组进行了一项需求评估调查，以帮助制定指南主题问题，随后进行文献检索、证据审查，并由健康从业者和有实际经验的人进行外部审查。我们遵循ADAPTE框架来评估唯一现存的SBMA指南（2020年法国国家方案）和2020年加拿大肌萎缩侧索硬化症指南的适用性。我们的流程遵循《研究与评价指南评估》（AGREE II）工具；采用了推荐分级、评估、制定和评价（GRADE）方法；并遵循了国际指南网络 - 麦克马斯特指南制定清单。原住民社区参与由Pewaseskwan原住民研究小组牵头，他们参与了指南的制定。
我们制定了41条建议，以解决SBMA护理的连续性问题，包括诊断；多学科团队；肢体和延髓症状、呼吸和心脏并发症以及多系统症状的管理；女性携带者；情感支持；以及对原住民的考虑。脊髓延髓性肌萎缩症最好由能够处理其运动和非运动表现（包括心脏受累、感觉症状和代谢功能障碍）的多学科团队进行管理。对女性携带者的关注可能包括症状管理和遗传咨询。医疗服务提供者应确保为原住民提供符合文化习惯的护理。
在本指南中，我们为医疗保健专业人员提供了针对SBMA的具有文化响应性的护理标准，并希望这将转化为受SBMA影响的人们生活质量的提高。
