Muscular Dystrophy Quiz

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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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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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People with similar symptoms also use Ubie's symptom checker to find possible causes

  • Before the hair loss, the scalp was itchy

  • Receding hairline

  • Trouble standing

  • No new hair growth

  • Thinning hair

  • Feeling weak after a panic attack

  • Scalp itch or discomfort, followed by hair falling out

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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.

Typical Symptoms of Muscular Dystrophy

  • Hair loss

  • Diagnosed with Scoliosis in the past

  • Weakness in arms or legs

  • Difficulty standing up from sitting position

  • Stiff, rigid muscles causing difficulty bending joints

  • Difficulty pronouncing words

  • Difficulty standing up without using hands on knees

  • Change in facial appearance / features

Doctor's Diagnostic Questionson Muscular Dystrophy

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

  • Are you experiencing increased hair loss?

  • Have you been diagnosed with Scoliosis?

  • Do your arms or legs feel weak?

  • Is it hard for you to get up from a chair by yourself?

  • Do you have stiff muscles and/or inflexible joints even with assistance?

Treatmentof 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.

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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

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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