Spinal Muscular Atrophy Quiz

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Tripping over nothing

Hands have fine tremors

Weak

Hard to walk

Swallowing difficulties

Unable to move both legs

Poor feeding

Not seeing your symptoms? No worries!

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

Diagnostic Questions for Spinal Muscular Atrophy

Your doctor may ask these questions to check for this disease:

  • Do you struggle turning over in bed by yourself?
  • Are you experiencing tremors in your hands or body?
  • Have you been tripping or falling more often?
  • Do you have difficulty walking normally?
  • Do you experience fine tremors in your hands or fingers?

Treatment of 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.

Reviewed By:

Benjamin Kummer, MD

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

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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Content updated on Mar 31, 2024

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Symptoms Related to Spinal Muscular Atrophy

Diseases Related to Spinal Muscular Atrophy

FAQs

Q.

Losing Muscle as You Age? How to Identify Sarcopenia and Your Next Steps

A.

Sarcopenia is age-related loss of muscle strength and mass that can start subtly in your 50s, showing up as weaker grip, slower walking, and trouble rising from a chair, and it is identified with tests of strength, body composition, and walking speed. It is common but often preventable and even reversible with early action. Key next steps include beginning regular strength training, increasing daily protein to about 1.0 to 1.2 g per kg, staying active, checking vitamin D, managing weight, and seeing a clinician urgently for rapid or unexplained weakness, frequent falls, or swallowing or breathing problems. There are several factors to consider, and important details that could change your plan are explained below.

References:

* Cruz-Jentoft AJ, Sayer AA. Sarcopenia. Lancet. 2019 Jul 27;393(10191):2636-2646. doi: 10.1016/S0140-6736(19)31138-1. Epub 2019 Jun 21. PMID: 31230877.

* Dent E, Morley JE, Cruz-Jentoft AJ, Ryall S, Kirkwood TB, Zamboni M, Cesari M, Canevelli M, Perez-Zepeda MU, Landi F, et al. International Clinical Practice Guidelines for Sarcopenia (ICFSR): screening, diagnosis and management. J Cachexia Sarcopenia Muscle. 2023 Dec;14(6):1709-1721. doi: 10.1002/jcsm.13324. Epub 2023 Oct 12. PMID: 37828062.

* Messina G, Alfieri A, Carfì A, Vetrano DL, Vulpiani MC, Vellas B, Cruz-Jentoft AJ, Landi F, Marzetti E. Exercise, physical activity, and sarcopenia. J Cachexia Sarcopenia Muscle. 2023 Dec;14(6):1722-1729. doi: 10.1002/jcsm.13317. Epub 2023 Oct 13. PMID: 37833075.

* Marzetti E, Landi F, Vetrano DL, Messina G, Alfieri A, Cruz-Jentoft AJ, Vellas B. Nutritional strategies for the prevention and treatment of sarcopenia. J Cachexia Sarcopenia Muscle. 2023 Dec;14(6):1730-1739. doi: 10.1002/jcsm.13316. Epub 2023 Oct 13. PMID: 37832675.

* Bauer J, Cruz-Jentoft AJ, Landi F, Landi F, Landi F, et al. Sarcopenia in older adults: a consensus statement. J Am Med Dir Assoc. 2022 Jul;23(7):1085-1094. doi: 10.1010/j.jamda.2022.05.013. Epub 2022 May 21. PMID: 35606680.

See more on Doctor's Note

Q.

Is it Muscle Weakness? Why Your Muscles Fail: SMA Medical Next Steps

A.

There are several factors to consider. Muscle weakness has many causes, and SMA is a genetic motor neuron condition from SMN1 changes that leads to progressive, age specific weakness and atrophy, confirmed by genetic testing where early treatment can improve outcomes. See below to understand more, including how to track symptoms, when to see a doctor or neurologist for testing, and when urgent care is needed for breathing or swallowing problems, along with key red flags and treatment options.

References:

* Messina D, Rosanna M, Simone S, Silvia M, Laura R, Gabriella E. Spinal Muscular Atrophy: Recent Advances in Therapy and Future Directions. J Clin Med. 2023 Sep 18;12(18):6037. doi: 10.3390/jcm12186037. PMID: 37731737; PMCID: PMC10531818.

* Mercuri E, Darras BT, Finkel RS, Muntoni F, Sansone MG, Messina S, Vita G, Servais L, Seferian AM, Young SD, Kirschner J, Bertini E, Montes J, Pera MC, D'Amico A, Gidaro T, Pane M, Salazar R, Arnold WD, Barohn RJ, Iannaccone ST, Kuntz NL, Saito K, Saito Y, Schwerk C, Sejersen T, Tiziano FD, Darras N, Hwu WL, Chen K, Saccardi E, Wade C, Coratti G, Tizzano EF. Long-Term Outcomes in Patients With Spinal Muscular Atrophy Treated With Nusinersen: An Update. Drugs. 2023 May;83(7):601-615. doi: 10.1007/s40265-023-01869-3. Epub 2023 Apr 6. PMID: 37021743; PMCID: PMC10123594.

* Mercuri E, Finkel RS, Muntoni F, van der Ploeg AT, Amaya K, Arnold WD, Bearzatto B, Bertini E, Biondi A, Darras BT, De Vivo DC, D'Amico A, Dydak U, Gidaro T, Hwu WL, Iannaccone ST, Kariya C, Kirschner J, Kuntz NL, Messina S, Montes J, Pera MC, Pichierri G, Saito Y, Saccardi E, Sansone MG, Salazar R, Servais L, Swoboda KJ, Tiziano FD, Vita G, Wade C, Young SD, Saito K, Chen K, Coratti G, Tizzano EF. Management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, newborn screening, and pre-symptomatic treatment. Neuromuscul Disord. 2021 Dec;31(12):1201-1215. doi: 10.1016/j.nmd.2021.07.009. Epub 2021 Jul 20. PMID: 34293049.

* Servais L, Oppenheimer M, Georgiev P. Spinal Muscular Atrophy: Pathophysiology and Therapeutic Prospects. Trends Mol Med. 2021 Nov;27(11):1111-1123. doi: 10.1016/j.molmed.2021.06.002. Epub 2021 Jul 1. PMID: 34208039.

* Arnold WD, Kassar D, Kissel JT. Diagnosis and Management of Spinal Muscular Atrophy: From Newborn Screening to Novel Therapies. Curr Neurol Neurosci Rep. 2020 Oct 14;20(12):56. doi: 10.1007/s11910-020-01083-9. PMID: 32943715; PMCID: PMC7560592.

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Q.

Muscle Atrophy? Why Your Muscles Waste and Medically Approved Next Steps

A.

Muscle atrophy is the loss of muscle mass from disuse, aging, poor nutrition, or nerve injury, and it ranges from reversible inactivity-related loss to serious neurogenic atrophy that requires prompt medical care. There are several factors and red flags to consider; see below for the full list of causes, when to seek urgent care, and medically approved next steps like medical evaluation, targeted physical therapy, adequate protein, progressive strength training, and treating underlying conditions.

References:

* Valenzuela PL, Mairet-Landa I, Palop-García C, Sánchez-Pena Á. Muscle Atrophy: A Scoping Review of Underlying Mechanisms and Potential Therapeutic Approaches. Int J Environ Res Public Health. 2024 Mar 21;21(3):304. doi: 10.3390/ijerph21030304. PMID: 38541999.

* Larsson L, Degens H, Li M, Salviati L, Lee YI, Thompson W, et al. Sarcopenia: Aging-related muscle loss. Physiol Rev. 2019 Jan 1;99(1):427-501. doi: 10.1152/physrev.00061.2017. PMID: 30299238.

* Milan G, Sandri M. Regulation of Muscle Mass: From Mechanisms to Therapies. Physiol Rev. 2021 Oct 1;101(4):1839-1881. doi: 10.1152/physrev.00007.2020. PMID: 34190479.

* Powers SK, Sandri M. Therapeutic Strategies Targeting Muscle Atrophy. Annu Rev Pharmacol Toxicol. 2023 Jan 6;63:203-222. doi: 10.1146/annurev-pharmtox-051820-101150. PMID: 36638786.

* Agrawal M, Kumar M, Kumar A, Mittal S. Pathophysiology of Sarcopenia and Potential Therapeutics: A Review. Curr Drug Targets. 2022;23(11):1083-1094. doi: 10.2174/1389450123666220624110156. PMID: 35790695.

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Maxwell J. Nanes, DO

Maxwell J. Nanes, DO

Emergency Medicine

Waukesha Memorial Hospital, Waukesha Wisconsin, USA

Caroline M. Doan, DO

Caroline M. Doan, DO

Internal Medicine

Signify Health

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Benjamin Kummer, MD

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Icahn School of Medicine at Mount Sinai

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U.S. Department of Veterans Affairs

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Dale Mueller, MD

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Cardiothoracic and Vascular Surgery Associates

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Penn State Health

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Ubie’s symptom checker demonstrated a Top-10 hit accuracy of 71.6%, surpassing the performance of several leading symptom checkers in the market, which averaged around 60% accuracy in similar assessments.

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References