Natural history of spinal-bulbar muscular atrophy
Natural history of spinal-bulbar muscular atrophy
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DOI：
10.1212/01.wnl.0000312510.49768.eb
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发表时间：
2008-05-20
期刊：
影响因子：
9.9
通讯作者：
Sorenson, Eric
中科院分区：
文献类型：
--
作者：
Chahin, Nizar;Klein, Christopher;Sorenson, Eric
背景资料：虽然脊髓延髓肌萎缩症（SBMA）通常被认为是与更好的生存和功能相比，其他运动神经元疾病，没有系统的研究长期的功能状态或survival.Methods：我们报告的结果进行了回顾性分析，39例遗传确诊的诊断和比较他们的生存正常，人口为基础的，年龄和性别匹配的对照。我们评估了25的33名幸存者的功能状态，完成修订后的ALS功能评定量表（ALSFRS-R）通过telephones.Results：SBMA的受试者的10年生存率为82%，而95%的年龄匹配的对照组（p = 0.053）。存活者的平均ALSFRS-r评分为37（范围27 - 43）。ALSFRS-r子评分表明大多数患者在所有领域都有轻度缺陷，最大的限制是楼梯的使用。虽然所有人都报告了延髓症状，但没有人有致残性缺陷。没有受试者需要经皮内镜胃造口术管和一个主题使用无创正压ventilation.Conclusions：长期生存的受试者与脊髓延髓肌萎缩症是最低限度地减少他们的年龄匹配的控制。长期功能评估显示，大多数患者在诊断后数年内有轻度神经功能缺损，无严重的延髓或呼吸功能障碍，行走功能良好。
Background: Although spinal-bulbar muscular atrophy (SBMA) is generally believed to be associated with better survival and function compared to other motor neuron diseases, no systematic study of long-term functional status or survival has been reported.Methods: We report the results a retrospective review of 39 patients with genetically confirmed diagnosis and compared their survival to normal, population-based, age-and gender-matched controls. We assessed the functional status of 25 of the 33 survivors by completing the revised ALS Functional Rating Scale (ALSFRS-r) by telephone.Results: The subjects with SBMA had a 10-year survival of 82% compared to 95% among the age-matched controls (p = 0.053). The mean ALSFRS-r score for the survivors was 37 (range 27 - 43). The ALSFRS-r subscores indicated mild deficits in all areas in most, with the greatest limitation being the use of stairs. While all reported bulbar symptoms, none had disabling deficits. None of the subjects required a percutaneous endoscopic gastrostomy tube and one subject used noninvasive positive pressure ventilation.Conclusions: The long-term survival of subjects with spinal-bulbar muscular atrophy is minimally reduced from their age-matched controls. The long-term functional assessments demonstrate mild neurologic impairment in most without devastating bulbar or respiratory dysfunction and good ambulatory function years after diagnosis.