Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan.
Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan.
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DOI：
10.3390/ijns7030045
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发表时间：
2021-07-20
影响因子：
3.5
通讯作者：
Shinohara M
中科院分区：
文献类型：
--
作者：
Kimizu T;Ida S;Okamoto K;Awano H;Niba ETE;Wijaya YOS;Okazaki S;Shimomura H;Lee T;Tominaga K;Nabatame S;Saito T;Hamazaki T;Sakai N;Saito K;Shintaku H;Nozu K;Takeshima Y;Iijima K;Nishio H;Shinohara M
脊髓性肌萎缩症（SMA）是一种遗传性神经肌肉疾病，导致人类脊髓前角细胞变性和随后的运动神经元丢失。重度SMA是婴儿死亡率最高的遗传性疾病之一。虽然SMA被认为是不可治愈的，但新开发的药物nusinersen和onasemnogene abeparvovec可改善受影响婴儿的生活质量和运动功能。为了最大限度地发挥这些药物的疗效，应在SMA的症状前阶段开始治疗。因此，现在强烈建议新生儿筛查SMA。在此，我们根据我们在日本通过基因检测诊断SMA的经验提供了一些数据。共有515名疑似SMA或其他下运动神经元疾病的患者接受了测试。在这些患者中，228例被诊断为SMA伴生存运动神经元1（SMN 1）缺失。我们分析了SMN 1缺失患者的临床亚型分布和基因检测时的年龄，并根据日本大坂和兵库县的数据估计了SMA的发病率。我们的数据显示，通过基因检测确诊明显延迟，估计发病率为3万至4万活产婴儿中有1例，似乎明显低于其他国家。这些发现表明，许多诊断延迟或未确诊的病例可能存在于日本。为了防止这种情况，需要在日本所有县实施SMA新生儿筛查计划（SMA-NBS）。在本文中，我们还介绍了我们的试点研究SMA-NBS在大坂府。
Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder that causes degeneration of anterior horn cells in the human spinal cord and subsequent loss of motor neurons. The severe form of SMA is among the genetic diseases with the highest infant mortality. Although SMA has been considered incurable, newly developed drugs—nusinersen and onasemnogene abeparvovec—improve the life prognoses and motor functions of affected infants. To maximize the efficacy of these drugs, treatments should be started at the pre-symptomatic stage of SMA. Thus, newborn screening for SMA is now strongly recommended. Herein, we provide some data based on our experience of SMA diagnosis by genetic testing in Japan. A total of 515 patients suspected of having SMA or another lower motor neuron disease were tested. Among these patients, 228 were diagnosed as having SMA with survival motor neuron 1 (SMN1) deletion. We analyzed the distribution of clinical subtypes and ages at genetic testing in the SMN1-deleted patients, and estimated the SMA incidence based on data from Osaka and Hyogo prefectures, Japan. Our data showed that confirmed diagnosis by genetic testing was notably delayed, and the estimated incidence was 1 in 30,000–40,000 live births, which seemed notably lower than in other countries. These findings suggest that many diagnosis-delayed or undiagnosed cases may be present in Japan. To prevent this, newborn screening programs for SMA (SMA-NBS) need to be implemented in all Japanese prefectures. In this article, we also introduce our pilot study for SMA-NBS in Osaka Prefecture.
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影响因子：
64.5
作者：
LEFEBVRE, S;BURGLEN, L;MELKI, J
通讯作者：
MELKI, J
影响因子：
3.5
作者：
Kucera KS;Taylor JL;Robles VR;Clinard K;Migliore B;Boyea BL;Okoniewski KC;Duparc M;Rehder CW;Shone SM;Fan Z;Raspa M;Peay HL;Wheeler AC;Powell CM;Bailey DB Jr;Gehtland LM
通讯作者：
Gehtland LM
影响因子：
15.1
作者：
Kariyawasam DST;D'Silva AM;Vetsch J;Wakefield CE;Wiley V;Farrar MA
通讯作者：
Farrar MA
影响因子：
5.7
作者：
Jedrzejowska, Maria;Milewski, Michal;Hausmanowa-Petrusewicz, Irena
通讯作者：
Hausmanowa-Petrusewicz, Irena
影响因子：
6
作者：
Harada, Y;Sutomo, R;Nishio, H
通讯作者：
Nishio, H