Badihian Negin, Savica Rodolfo, Adler Charles H, Wszolek Zbigniew K, Jackson Lauren M, Benarroch Eduardo E, Sandroni Paola, Low Phillip A, Singer Wolfgang, Coon Elizabeth A
Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
Department of Neurology, Mayo Clinic College of Medicine, Scottsdale, Arizona, USA.
Mov Disord Clin Pract. 2024 Mar;11(3):220-226. doi: 10.1002/mdc3.13925. Epub 2023 Nov 23.
Young-onset multiple system atrophy (YOMSA) is defined as the onset of multiple system atrophy (MSA) before the age of 40 years old. YOMSA is rare and there is much uncertainty of the phenotype and natural history in patients with YOMSA.
The objective is to evaluate the characteristics and disease course of patients with YOMSA.
We retrospectively reviewed medical records of patients with MSA who were evaluated at all Mayo Clinic sites from 1998 to 2021. We identified patients with YOMSA and evaluated clinical characteristics, autonomic function testing results, and disease course.
Of 1496 patients with a diagnosis of clinically probable or clinically established MSA, 20 patients had YOMSA. The median age of onset was 39.1 (interquartile range [IQR] = 37.1, 40.1) years; 13 patients (65%) were male. MSA-parkinsonism was the most common subtype (65%). The median duration of symptom onset to YOMSA diagnosis was 4.9 (IQR = 3.7, 9) years. At the time of medical record review, 17 patients were deceased with a median survival of 8.3 (IQR = 7, 10.9) years. Univariate analysis showed that initial onset of autonomic failure predicted unfavorable survival (hazard ratio = 2.89, P = 0.04) compared to those who presented with motor impairment only at onset. At the time of YOMSA diagnosis, composite autonomic severity score was available in 19 patients with a median of 5 (IQR = 4, 6.5).
YOMSA resembles MSA in most aspects including phenotype and prognosis, although the diagnosis is usually delayed. The presence of autonomic failure at symptom onset may be a poor predictor for survival.
青年起病型多系统萎缩（YOMSA）定义为多系统萎缩（MSA）在40岁之前起病。YOMSA较为罕见，且YOMSA患者的表型和自然病史存在诸多不确定性。
评估YOMSA患者的特征和病程。
我们回顾性分析了1998年至2021年在梅奥诊所各院区接受评估的MSA患者的病历。我们识别出YOMSA患者，并评估其临床特征、自主神经功能测试结果和病程。
在1496例临床可能或确诊的MSA患者中，20例为YOMSA。发病年龄中位数为39.1（四分位间距[IQR]=37.1，40.1）岁；13例（65%）为男性。帕金森型MSA是最常见的亚型（65%）。从症状出现到YOMSA诊断的中位时间为4.9（IQR=3.7，9）年。在病历回顾时，17例患者已死亡，中位生存期为8.3（IQR=7，10.9）年。单因素分析显示，与仅在起病时出现运动障碍的患者相比，自主神经功能衰竭初发预示生存情况不佳（风险比=2.89，P=0.04）。在YOMSA诊断时，19例患者有综合自主神经严重程度评分，中位数为5（IQR=4，6.5）。
YOMSA在大多数方面与MSA相似，包括表型和预后，尽管诊断通常会延迟。症状起病时存在自主神经功能衰竭可能是生存的不良预测因素。
