Spinal Muscular Atrophy Quiz
Reviewed By:
Shohei Harase, MD (Neurology)
Dr. Harase spent his junior and senior high school years in Finland and the U.S. After graduating from the University of Washington (Bachelor of Science, Molecular and Cellular Biology), he worked for Apple Japan Inc. before entering the University of the Ryukyus School of Medicine. He completed his residency at Okinawa Prefectural Chubu Hospital, where he received the Best Resident Award in 2016 and 2017. In 2021, he joined the Department of Cerebrovascular Medicine at the National Cerebral and Cardiovascular Center, specializing in hyperacute stroke.
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Learn more about Spinal muscular atrophy
Content updated on Sep 20, 2022
Spinal muscular atrophy is a group of genetic disorders in which a person cannot control the movement of their muscles due to a loss of nerve cells in the spinal cord and brainstem. It causes muscle wasting and weakness.
Falling frequently
Fine tremor of the hands and fingers
Weakness in arms or legs
Difficulty in walking
Difficulty pronouncing words
Unable to move both legs
Difficulty swallowing food or water
Unable to move both arms
Your doctor may ask these questions to diagnose spinal muscular atrophy
Do you feel that you fall over or slip more often?
Do you have a slight trembling of your fingers?
Do you feel any weakness in your arms or legs?
Do you have any difficulty walking?
Do you have difficulty pronouncing words properly?
There is no cure for spinal muscular atrophy (SMA) currently.Treatment and support is available to manage the symptoms and to help have the best possible quality of life. The FDA has approved some medications which are forms of gene therapy.
View the symptoms of Spinal muscular atrophy
Diseases related to Spinal muscular atrophy
References
Kolb SJ, Kissel JT. Spinal Muscular Atrophy. Neurol Clin. 2015 Nov;33(4):831-46. doi: 10.1016/j.ncl.2015.07.004. PMID: 26515624; PMCID: PMC4628728.
https://www.sciencedirect.com/science/article/abs/pii/S0733861915000614?via%3Dihub
Arnold ES, Fischbeck KH. Spinal muscular atrophy. Handb Clin Neurol. 2018;148:591-601. doi: 10.1016/B978-0-444-64076-5.00038-7. PMID: 29478602.
https://www.sciencedirect.com/science/article/abs/pii/B9780444640765000387?via%3Dihub
D'Amico A, Mercuri E, Tiziano FD, Bertini E. Spinal muscular atrophy. Orphanet J Rare Dis. 2011 Nov 2;6:71. doi: 10.1186/1750-1172-6-71. PMID: 22047105; PMCID: PMC3231874.
https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-6-71
Nicolau S, Waldrop MA, Connolly AM, Mendell JR. Spinal Muscular Atrophy. Semin Pediatr Neurol. 2021 Apr;37:100878. doi: 10.1016/j.spen.2021.100878. Epub 2021 Feb 11. PMID: 33892848.
https://www.sciencedirect.com/science/article/abs/pii/S1071909121000061?via%3Dihub
Nance JR. Spinal Muscular Atrophy. Continuum (Minneap Minn). 2020 Oct;26(5):1348-1368. doi: 10.1212/CON.0000000000000918. PMID: 33003005.
https://journals.lww.com/continuum/Abstract/2020/10000/Spinal_Muscular_Atrophy.13.aspx
Reviewed By:
Shohei Harase, MD (Neurology)
Dr. Harase spent his junior and senior high school years in Finland and the U.S. After graduating from the University of Washington (Bachelor of Science, Molecular and Cellular Biology), he worked for Apple Japan Inc. before entering the University of the Ryukyus School of Medicine. He completed his residency at Okinawa Prefectural Chubu Hospital, where he received the Best Resident Award in 2016 and 2017. In 2021, he joined the Department of Cerebrovascular Medicine at the National Cerebral and Cardiovascular Center, specializing in hyperacute stroke.
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Seiji Kanazawa, MD, PHD
Obstetrics and gynecology (OBGYN)
National Center for Child Health and Development, Japan