Journal article
Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations
Abstract
BACKGROUND: Spinal muscular atrophy (SMA) is characterized by the progressive loss of motor neurons causing muscle atrophy and weakness. Nusinersen, the first effective SMA therapy was approved by Health Canada in June 2017 and has been added to the provincial formulary of all but one Canadian province. Access to this effective therapy has triggered the inclusion of SMA in an increasing number of Newborn Screening (NBS) programs. However, the …
Authors
McMillan HJ; Kernohan KD; Yeh E; Amburgey K; Boyd J; Campbell C; Dowling JJ; Gonorazky H; Marcadier J; Tarnopolsky MA
Journal
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, Vol. 48, No. 4, pp. 504–511
Publisher
Cambridge University Press (CUP)
Publication Date
7 2021
DOI
10.1017/cjn.2020.229
ISSN
0317-1671