TY  - JOUR
AU  - Ross, Steven D.
AU  - Rudowski, Sydney
AU  - Kanungo, Shibani
PY  - 2023
DA  - 2023/06/14
TI  - Spinal Muscular Atrophy: An Overview
JO  - OBM Genetics
SP  - 182
VL  - 07
IS  - 02
AB  - Spinal muscular atrophy, a leading cause of infant death, is a neurodegenerative disease classified categorically based on age of onset and achieved motor function. The standard method of diagnosis is through molecular genetic testing, ideally through the newborn screen to facilitate early diagnosis and treatment. There are 4 types of spinal muscular atrophy, each with varying degrees of symptoms based on the number of survival motor neurons. Current treatment options include gene therapy and supportive care. Future directions for treatment include complimentary non-gene targeted therapies and lifestyle changes.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.2302182
DO  - 10.21926/obm.genet.2302182
ID  - Ross2023
ER  -