Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.
Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden, and.
Amyotroph Lateral Scler Frontotemporal Degener. 2023 Feb;24(1-2):45-53. doi: 10.1080/21678421.2022.2053722. Epub 2022 Mar 27.
: To provide a detailed and differentiated description of the path to receiving the correct amyotrophic lateral sclerosis (ALS) diagnosis, including delay times, referrals, alternate diagnoses, and clinical progression.: Medical records until the date of ALS diagnosis were reviewed and linked to the Swedish Motor Neuron Disease Quality Registry. The study included 353 Stockholm ALS patients diagnosed in 2016-2021. Patients were divided into four groups: 117 (33.1%) with lower extremity (LE), 85 (24.1%) with upper extremity (UE), 136 (38.5%) with bulbar, and 15 (4.2%) with respiratory onset. The time from onset to diagnosis was 16.0 (9.4-27.5) months in LE, 12.9 (8.8-17.8) months in UE, 11.7 (7.4-16.0) months in bulbar, and 8.3 (4.7-15.6) months in respiratory onset. Patients with UE or LE onset were often referred to orthopedics or a spinal/hand surgery clinic (29.3% for LE and 41.8% for UE), while bulbar patients were more frequently referred to ENT (66.3%). For those with LE or UE onset, the most common alternate diagnosis was spinal/foraminal stenosis whereas myasthenia gravis and stroke were more common for bulbar onset patients. For the respiratory group, cardiopulmonary diagnoses predominated. The proportion of all patients in King's stage 3 or 4 increased from 11.3% to 46.1% from the initial health care visit to diagnosis. There was great variation in the path to ALS diagnosis according to the onset clinical phenotype. In all groups, the diagnostic delay and clinical progression was substantial. We identified subgroups where the delay was the longest and might be reduced.
为了详细描述并区分接收正确肌萎缩侧索硬化症（ALS）诊断的路径，包括延迟时间、转诊、其他诊断和临床进展：回顾了从发病到 ALS 诊断日期的医疗记录，并与瑞典运动神经元疾病质量登记处相关联。该研究包括 2016 年至 2021 年期间在斯德哥尔摩诊断的 353 名 ALS 患者。患者分为四组：117 名（33.1%）下肢（LE）起病，85 名（24.1%）上肢（UE）起病，136 名（38.5%）延髓起病，15 名（4.2%）呼吸起病。LE 的发病到诊断的时间为 16.0（9.4-27.5）个月，UE 为 12.9（8.8-17.8）个月，延髓为 11.7（7.4-16.0）个月，呼吸起病为 8.3（4.7-15.6）个月。上肢或下肢起病的患者经常转诊至骨科或脊柱/手部外科诊所（LE 为 29.3%，UE 为 41.8%），而延髓起病的患者更多地转诊至耳鼻喉科（66.3%）。对于上肢或下肢起病的患者，最常见的其他诊断是脊柱/椎间孔狭窄症，而延髓起病的患者更常见重症肌无力和中风。对于呼吸组，心肺诊断占主导地位。从首次就诊到诊断，所有患者中处于 King 分期 3 或 4 期的比例从 11.3%增加到 46.1%。根据发病临床表型，ALS 诊断的路径存在很大差异。在所有组中，诊断延迟和临床进展都很大。我们确定了延迟时间最长的亚组，并可能会减少延迟。
