Muscular Dystrophy 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.
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Learn more about Muscular dystrophy
Content updated on Nov 7, 2023
What is muscular dystrophy?
Muscular dystrophy (MD) is a group of diseases causing progressive weakness and muscle wasting. It is caused by mutated genes that normally allow healthy muscles to form. Different types of MD can appear at different ages, ranging from childhood to adulthood, and also present different levels of severity and clinical manifestations.
Symptoms of muscular dystrophy
Weakness in arms or legs
Hair loss
Difficulty standing up from sitting position
Stiff, rigid muscles causing difficulty bending joints
Diagnosed with Scoliosis in the past
Recent weight loss
Difficulty standing up without using hands on knees
Difficulty pronouncing words
Questions your doctor may ask to check for muscular dystrophy
Your doctor may ask these questions to diagnose muscular dystrophy
Do you feel any weakness in your arms or legs?
Have you felt that you are losing more hair recently?
Do you have difficulty in getting up from a chair on your own?
Do you have stiff muscle and/or joints that are not flexible even with assistance?
Have you ever been diagnosed with Scoliosis?
Treatment for muscular dystrophy
There is no cure for MD, but generally, exercise, physical/occupational therapy, and supportive care for symptoms like swallowing and breathing problems can help manage symptoms and slow disease progression. In certain forms of MD, medications to reduce inflammation (steroids) can reduce progression.
View the symptoms of Muscular dystrophy
Diseases related to Muscular dystrophy
References
Butterfield RJ. Congenital Muscular Dystrophy and Congenital Myopathy. Continuum (Minneap Minn). 2019 Dec;25(6):1640-1661. doi: 10.1212/CON.0000000000000792. PMID: 31794464.
https://journals.lww.com/continuum/Abstract/2019/12000/Congenital_Muscular_Dystrophy_and_Congenital.9.aspx
Harmelink M. Differentiating Congenital Myopathy from Congenital Muscular Dystrophy. Clin Perinatol. 2020 Mar;47(1):197-209. doi: 10.1016/j.clp.2019.10.005. Epub 2019 Oct 11. PMID: 32000926.
https://www.sciencedirect.com/science/article/abs/pii/S0095510819301253?via%3Dihub
Harper PS. Myotonic Dystrophy, 3rd ed, WB Saunders, London 2001.
https://academic.oup.com/brain/article/125/8/1225/332406
Narayanaswami P, Weiss M, Selcen D, David W, Raynor E, Carter G, Wicklund M, Barohn RJ, Ensrud E, Griggs RC, Gronseth G, Amato AA; Guideline Development Subcommittee of the American Academy of Neurology; Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2014 Oct 14;83(16):1453-63. doi: 10.1212/WNL.0000000000000892. PMID: 25313375; PMCID: PMC4206155.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4206155/
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.
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