Spinal Muscular Atrophy Quiz
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Reviewed By:
Benjamin Kummer, MD (Neurology)
Dr Kummer is Assistant Professor of Neurology at the Icahn School of Medicine at Mount Sinai (ISMMS), with joint appointment in Digital and Technology Partners (DTP) at the Mount Sinai Health System (MSHS) as Director of Clinical Informatics in Neurology. As a triple-board certified practicing stroke neurologist and informaticist, he has successfully improved clinical operations at the point of care by acting as a central liaison between clinical neurology faculty and DTP teams to implement targeted EHR configuration changes and workflows, as well as providing subject matter expertise on health information technology projects across MSHS. | Dr Kummer also has several years’ experience building and implementing several informatics tools, presenting scientific posters, and generating a body of peer-reviewed work in “clinical neuro-informatics” – i.e., the intersection of clinical neurology, digital health, and informatics – much of which is centered on digital/tele-health, artificial intelligence, and machine learning. He has spearheaded the Clinical Neuro-Informatics Center in the Department of Neurology at ISMMS, a new research institute that seeks to establish the field of clinical neuro-informatics and disseminate knowledge to the neurological community on the effects and benefits of clinical informatics tools at the point of care.
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.
Content updated on Mar 31, 2024
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How Ubie Can Help You
With an easy 3-min questionnaire , Ubie's AI-powered system will generate a free report on possible causes.
Questions are customized to your situation and symptoms, including the following personal information:
Biological Sex - helps us provide relevant suggestions for male vs. female conditions.
Age - adjusts our guidance based on any age-related health factors.
History - considers past illnesses, surgeries, family history, and lifestyle choices.
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✔︎ When to see a doctor
✔︎ What causes your symptoms
✔︎ Treatment information etc.
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Can't turn on bed
Shaky hands
Abnormal gait
Hand tremors
Essential tremor
Trip over my own feet a lot
Shivering body
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What is Spinal Muscular Atrophy?
Spinal muscular atrophy is a group of genetic disorders where a person cannot control their muscle movement due to a loss of nerve cells in the spinal cord and brainstem. It causes muscle wasting and weakness.
Typical Symptoms of Spinal Muscular Atrophy
Unable to turn over when lying down
Trembling of fingers or whole body
Falling frequently
Difficulty in walking
Fine tremor of the hands and fingers
Difficulty standing up from sitting position
Having difficulty writing out words
Difficulty pronouncing words
Doctor's Diagnostic Questionson Spinal Muscular Atrophy
Your doctor may ask these questions to check for this disease:
Do you struggle turning over in bed by yourself?
Do you have trembling in your fingers or body?
Do you fall or slip frequently?
Is walking difficult for you?
Do your fingers tremble slightly?
Treatmentof Spinal Muscular Atrophy
There is currently no cure for spinal muscular atrophy (SMA). Treatment and support are available to manage symptoms and help achieve the best possible quality of life. The FDA has approved some medications, which are forms of gene therapy.
Think you might have
Spinal Muscular Atrophy
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
User Testimonials
Reviewed By:
Benjamin Kummer, MD (Neurology)
Dr Kummer is Assistant Professor of Neurology at the Icahn School of Medicine at Mount Sinai (ISMMS), with joint appointment in Digital and Technology Partners (DTP) at the Mount Sinai Health System (MSHS) as Director of Clinical Informatics in Neurology. As a triple-board certified practicing stroke neurologist and informaticist, he has successfully improved clinical operations at the point of care by acting as a central liaison between clinical neurology faculty and DTP teams to implement targeted EHR configuration changes and workflows, as well as providing subject matter expertise on health information technology projects across MSHS. | Dr Kummer also has several years’ experience building and implementing several informatics tools, presenting scientific posters, and generating a body of peer-reviewed work in “clinical neuro-informatics” – i.e., the intersection of clinical neurology, digital health, and informatics – much of which is centered on digital/tele-health, artificial intelligence, and machine learning. He has spearheaded the Clinical Neuro-Informatics Center in the Department of Neurology at ISMMS, a new research institute that seeks to establish the field of clinical neuro-informatics and disseminate knowledge to the neurological community on the effects and benefits of clinical informatics tools at the point of care.
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.
Think you might have
Spinal Muscular Atrophy
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Cardiothoracic Surgery, Vascular Surgery
Cardiothoracic and Vascular Surgery Associates
