Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan

Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan

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 in...

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Bibliographic Details
Main Authors: Tomokazu Kimizu, Shinobu Ida, Kentaro Okamoto, Hiroyuki Awano, Emma Tabe Eko Niba, Yogik Onky Silvana Wijaya, Shin Okazaki, Hideki Shimomura, Tomoko Lee, Koji Tominaga, Shin Nabatame, Toshio Saito, Takashi Hamazaki, Norio Sakai, Kayoko Saito, Haruo Shintaku, Kandai Nozu, Yasuhiro Takeshima, Kazumoto Iijima, Hisahide Nishio, Masakazu Shinohara
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:International Journal of Neonatal Screening
Subjects:
spinal muscular atrophy
<i>SMN1</i>
deletion
incidence
newborn screening
Online Access:https://www.mdpi.com/2409-515X/7/3/45

Internet

https://www.mdpi.com/2409-515X/7/3/45

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