Osman Homira, Adamji Zainab, Pfeffer Gerald, Warman-Chardon Jodi, Varma Pryamvada, Keindel Jenna, Lintern Stacey
Muscular Dystrophy Canada, Toronto, Canada.
Neuromuscular Disease Network of Canada, Ottawa, Canada.
Health Expect. 2025 Jun;28(3):e70271. doi: 10.1111/hex.70271.
Limb-girdle muscular dystrophies (LGMDs) encompass a rare and genetically diverse set of disorders, posing challenges in diagnosis due to the absence of distinct pathological features, leading to frequent misdiagnoses and inadequate symptom management. Yet, there is a scarcity of published data on how patients perceive the diagnostic journey of LGMD. Our aim was to unveil the firsthand experiences of individuals with LGMD to gain insight into their perspective on the diagnosis process. This study comprehensively captures the LGMD patient and caregiver experiences-from symptom onset through diagnosis to current disorder management.
Insights into the lived experience of LGMD were consolidated from semi-structured interviews and a cross-sectional mixed-methods survey of quantitative and qualitative questions. Quantitative data were analysed using descriptive statistics and frequencies, while inductive content analysis was applied to qualitative responses. During the validation phase, patient authors validated and prioritised the insights and overarching themes.
From 108 participants (104 people with LGMD and 4 parent caregivers), five overarching themes were identified. These themes include (1) difficulty with diagnostic process, with 8 years noted as time from the symptom onset until they obtain the definitive diagnosis; (2) difficulty obtaining genetic testing and specialist care; (3) sense of disconnect with healthcare professionals, often resulting from lack of knowledge and awareness of the condition; (4) a state of emotional distress, feelings of hopelessness, depression, fear and anxiety with the diagnosis process; and (5) impact on mobility and ambulation.
The LGMD diagnosis journey is marked by barriers and misdiagnoses, leading to considerable diagnostic delays. Overcoming these challenges requires increased awareness among healthcare professionals and improved patient access to genetic testing.
Patients with LGMD were involved as research partners in all phases of this study, including identifying the research question and the need for an assessment of the diagnosis journey for LGMD in Canada. The patients also worked with the authors to interpret and validate the data collected and contributed to the preparation of the manuscript by participating in the review and editing process.
肢带型肌营养不良症（LGMDs）是一组罕见且基因多样的疾病，由于缺乏明显的病理特征，在诊断方面存在挑战，常导致误诊和症状管理不足。然而，关于患者如何看待LGMD诊断过程的已发表数据却很匮乏。我们的目的是揭示LGMD患者的第一手经历，以深入了解他们对诊断过程的看法。本研究全面记录了LGMD患者及其护理人员的经历——从症状出现到诊断，再到目前的疾病管理。
通过半结构化访谈以及对定量和定性问题的横断面混合方法调查，汇总了对LGMD生活经历的见解。定量数据采用描述性统计和频率分析，而定性回答则采用归纳性内容分析。在验证阶段，患者作者对见解和总体主题进行了验证并确定了优先级。
在108名参与者（104名LGMD患者和4名家长护理人员）中，确定了五个总体主题。这些主题包括：（1）诊断过程困难，从症状出现到获得明确诊断的时间长达8年；（2）难以获得基因检测和专科护理；（3）与医护人员脱节，这通常是由于对该疾病缺乏了解和认识；（4）情绪困扰状态，在诊断过程中感到绝望、抑郁、恐惧和焦虑；（5）对活动能力和行走的影响。
LGMD的诊断过程存在障碍和误诊，导致诊断出现相当大的延迟。克服这些挑战需要提高医护人员的认识，并改善患者获得基因检测的机会。
LGMD患者作为研究伙伴参与了本研究的所有阶段，包括确定研究问题以及评估加拿大LGMD诊断过程的必要性。患者还与作者合作解读和验证所收集的数据，并通过参与审阅和编辑过程为稿件的撰写做出了贡献。
