Diagnostic journey for people with FKRP mutations participating in a dystroglycanopathy natural history study (n = 68; NCT00313677) was analyzed. Earliest symptoms and age at muscular dystrophy diagnosis were abstracted from subject-reported medical history and record review. Initial signs/symptoms were classified as chronic motor dysfunction (e.g., delayed motor milestones, weakness, falling; n = 40, 59%), elevated transaminases (n = 7, 10%), or acute/intermittent symptoms (myoglobinuria, myalgia, febrile illness-associated acute weakness; n = 21, 31%). Median time from sign/symptom onset to diagnosis was 6.5 years and differed by symptom group: 7.5 years for motor group, 9 years for acute/intermittent group, and 4 years for elevated transaminases group. The sign/symptom category that most commonly resulted in a diagnosis was chronic motor dysfunction (n = 45). Of those without clear weakness as first symptom (n = 55), 36.4% were not diagnosed with MD until weakness became apparent. Median time to diagnosis was shortest for those with febrile illness-associated acute weakness (0.25 years). Median time from first sign/symptom to MD diagnosis has decreased incrementally from 18.8 years for those with onset in the 1970s to < 10 years for symptom onset occurring after 2000. Awareness of disease presentation variability will aid in earlier diagnosis, which is increasingly important with treatments in development.

对参与肌营养不良症自然史研究（n  = 68；NCT00313677）的FKRP突变患者的诊断过程进行了分析。从受试者报告的病史和记录审查中提取最早的症状和诊断肌营养不良症的年龄。最初的体征/症状被归类为慢性运动功能障碍（例如，运动里程碑延迟、虚弱、跌倒；n  = 40, 59%）、转氨酶升高（n  = 7, 10%）或急性/间歇性症状（肌红蛋白尿、肌痛、发热性疾病相关的急性虚弱；n = 21, 31%)。从体征/症状发作到诊断的中位时间为 6.5 年，并且因症状组而异：运动组为 7.5 年，急性/间歇性组为 9 年，转氨酶升高组为 4 年。最常导致诊断的体征/症状类别是慢性运动功能障碍 ( n  = 45)。在没有明显无力作为首发症状的患者中（n = 55), 36.4% 直到虚弱变得明显才被诊断出患有 MD。发热性疾病相关急性虚弱患者的中位诊断时间最短（0.25 年）。从第一次体征/症状到 MD 诊断的中位时间从 1970 年代发病的 18.8 年逐渐减少到 2000 年后出现症状的 <10 年。了解疾病表现的变异性将有助于早期诊断，这对于开发中的治疗。