A natural history study of X-linked myotubular myopathy.
A natural history study of X-linked myotubular myopathy.
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DOI：
10.1212/wnl.0000000000004415
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发表时间：
2017-09-26
期刊：
影响因子：
9.9
通讯作者：
Dowling JJ
中科院分区：
文献类型：
--
作者：
Amburgey K;Tsuchiya E;de Chastonay S;Glueck M;Alverez R;Nguyen CT;Rutkowski A;Hornyak J;Beggs AH;Dowling JJ
目的：明确X连锁肌管性肌病(MTM)的自然病史。我们进行了一项横断面研究，其中包括在线调查(n=35)和电话调查(n=33)一年的前瞻性纵向调查。我们确定了50名男性MTM患者的数据，并对33名受影响的患者进行了纵向评估。与现有知识一致，我们发现MTM是一种与广泛发病率相关的疾病，包括轮椅(86.7%不能行走)和呼吸机(75%需要16小时的支持)依赖。然而，与以前的报告不同的是，尽管疾病负担很高，但死亡率低于预期(约为10%/年)。76%的MTM患者(平均年龄10岁11个月)在研究结束时还活着。研究中几乎所有的死亡都与呼吸衰竭有关。此外，病程比预期更稳定，在前瞻性调查期间报告的不良事件很少。尽管学习障碍的发生率出人意料地高(43%)，但几乎没有发现非肌肉相关的疾病。相反，MTM与患者和照顾者日常生活的巨大负担有关，反映在缺课和工作日的损失上。MTM是最严重的神经肌肉疾病之一，患者需要广泛的机械干预才能生存。然而，在研究参与者中，疾病过程比预期的更稳定，更多的人存活在婴儿期和幼儿期。这些数据反映了MTM的疾病负担，但也为未来的治疗干预提供了希望。
To define the natural history of X-linked myotubular myopathy (MTM). We performed a cross-sectional study that included an online survey (n = 35) and a prospective, 1-year longitudinal investigation using a phone survey (n = 33). We ascertained data from 50 male patients with MTM and performed longitudinal assessments on 33 affected individuals. Consistent with existing knowledge, we found that MTM is a disorder associated with extensive morbidities, including wheelchair (86.7% nonambulant) and ventilator (75% requiring >16 hours of support) dependence. However, unlike previous reports and despite the high burden of disease, mortality was lower than anticipated (approximate rate 10%/y). Seventy-six percent of patients with MTM enrolled (mean age 10 years 11 months) were alive at the end of the study. Nearly all deaths in the study were associated with respiratory failure. In addition, the disease course was more stable than expected, with few adverse events reported during the prospective survey. Few non–muscle-related morbidities were identified, although an unexpectedly high incidence of learning disability (43%) was noted. Conversely, MTM was associated with substantial burdens on patient and caregiver daily living, reflected by missed days of school and lost workdays. MTM is one of the most severe neuromuscular disorders, with affected individuals requiring extensive mechanical interventions for survival. However, among study participants, the disease course was more stable than predicted, with more individuals surviving infancy and early childhood. These data reflect the disease burden of MTM but offer hope in terms of future therapeutic intervention.