文摘
摘要目的:评估患者的发病特点和年青多系统萎缩(YOMSA)。
背景:YOMSA之前被定义为MSA的发病年龄40年。有限的信息在这些病人的疾病过程和结果。
设计/方法:我们回顾了病历的临床诊断的患者建立或临床疑似MSA梅奥诊所进行评估的网站从1998年到2021年。我们发现患者在疾病发病时间≤40年。我们评估临床特点,疾病,和自主功能测试结果。复合自主严重程度评分(CASS)是基于自主计算测试。
结果:1496年建立的临床诊断或疑似MSA患者,20例YOMSA。平均发病年龄为38.61(±2.16)年;13例(65%)是男性。MSA-parkinsonism是最常见的亚型(65%)。病历回顾的时候,15例死者死亡的平均年龄为47.88(±3.83)年。疾病持续时间的中位数课程(发病死亡)和发病诊断是7.67(差:6.36,10.23)和4.90(差:3.70、8.61)年,分别。患者自主神经症状疾病发病的时候有一个短的疾病过程相比,那些没有自主的投诉(6.60年和10.74年;p = 0.037)。YOMSA诊断的时候,体温调节的汗水测试进行了17个病人中88%的无汗症;卡斯是19位数的患者可用5 (IQR: 4, 6.5)。 Genetic evaluations were performed in 6 patients with no revealing results.
结论:患者YOMSA往往诊断在疾病后期课程。那些自主症状疾病发病的时候更快速课程相比,那些最初的马达接通。
披露:Badihian博士没有披露。Savica博士的机构已收到从阿卡迪亚制药研究支持,Inc . Adler博士已经收到个人薪酬在500 - 4999美元的范围为Amneal担任顾问。阿德勒博士已经收到个人薪酬在500 - 4999美元的范围为军用飞机担任顾问。阿德勒博士已经收到个人薪酬在10000 - 49999美元的范围作为顾问CND生命科学。阿德勒博士已经收到个人薪酬在5000 - 9999美元的范围为爵士担任顾问。阿德勒博士已经收到个人薪酬在500 - 4999美元的范围为Precon担任顾问。阿德勒博士已经收到个人薪酬在500 - 4999美元的范围作为神经内分泌的顾问服务。阿德勒博士的机构收到NIH的研究支持。阿德勒博士的机构收到迈克尔·j·福克斯基金会的研究支持。阿德勒博士的机构已收到来自亚利桑那州的研究支持生物医学研究委员会。 Dr. Adler has received publishing royalties from a publication relating to health care. Dr. Wszolek has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Polish Neurological Society/Via Medica. Dr. Jackson has nothing to disclose. Dr. Benarroch has nothing to disclose. Dr. Sandroni has nothing to disclose. Dr. Low has nothing to disclose. Dr. Singer has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amneal. Dr. Singer has received personal compensation in the range of $500-$4,999 for serving as a Consultant for UniQure. The institution of Dr. Singer has received research support from NIH. The institution of Dr. Singer has received research support from FDA. Dr. Singer has received intellectual property interests from a discovery or technology relating to health care. Dr. Coon has nothing to disclose.
