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Shoulder pain
Dysarthria
Pitting edema
Muscle contraction
Muscle weakness
Loss of balance
Muscle tension
Swollen calves
Muscle loss
Loss of hair
Difficulty standing up from sitting position
Fine tremors
Not seeing your symptoms? No worries!
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.
Your doctor may ask these questions to check for this disease:
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.
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 Jul 10, 2024
Following the Medical Content Editorial Policy
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Q.
Muscle Weakness? Why Your Skeletal Muscle Is Failing & Medically Approved Next Steps
A.
Skeletal muscle weakness has many often treatable causes, including deconditioning, nutrition or hormone issues, nerve problems, autoimmune or genetic disorders, medication effects, and age related loss, but seek urgent care for sudden one sided weakness, trouble breathing or swallowing, severe pain with dark urine, or fast worsening. Medically approved next steps include seeing a clinician for an exam and targeted tests, then using evidence based treatments like progressive strength training, adequate protein, correcting vitamin or iron deficits, managing underlying conditions, and physical therapy; there are several factors to consider, and key details that could change your next steps are explained below.
References:
* Gooch CL, Dimberg EL. Weakness: The Neurologist's Approach. Neurol Clin. 2021 May;39(2):291-306. doi: 10.1016/j.ncl.2021.01.006. PMID: 33947571.
* Schiaffino S, Blaauw B, Romanello V. Skeletal muscle health and disease: biological underpinnings and therapeutic potential. Physiol Rev. 2022 Jan 1;102(1):319-373. doi: 10.1152/physrev.00010.2021. PMID: 34399081.
* Punga AR, Salaj P. Advances in the treatment of neuromuscular disorders. J Intern Med. 2022 Aug;292(2):209-228. doi: 10.1111/joim.13524. PMID: 35688588.
* Cruz-Jentoft AJ, Sayer AA. Sarcopenia: Etiology, Clinical Implications, and Therapeutic Strategies. Nat Rev Endocrinol. 2019 Mar;15(3):142-153. doi: 10.1038/s41574-018-0137-9. PMID: 30546174.
* Gungor S, Akyuz G. Diagnostic Approaches to Skeletal Muscle Weakness. Phys Med Rehabil Clin N Am. 2022 Nov;33(4):781-797. doi: 10.1016/j.pmr.2022.06.002. PMID: 36328659.
Q.
Is it Muscular Dystrophy? Why Your Muscles Are Failing & Medically Approved Next Steps
A.
Muscle weakness is not always muscular dystrophy; many treatable causes are more common, while MD is a genetic, progressive condition suspected when weakness steadily worsens, runs in families, or follows specific age and muscle patterns. There are several factors to consider. See below to understand more. Start by tracking symptoms and family history, see a doctor to check CK and consider genetic testing with a neurologist’s input, and seek urgent care for breathing, swallowing, chest symptoms, or rapidly worsening weakness; complete, medically approved next steps and key red flags are detailed below.
References:
* Birnkrant DJ, Bushby K, Guglieri M, et al. Muscular Dystrophy: A Concise Review. JAMA. 2021 May 4;325(17):1769-1780. doi: 10.1001/jama.2021.4111. PMID: 33943015.
* Naddaf E, Amato AA. Approach to the adult with muscle weakness: a diagnostic perspective. Continuum (Minneap Minn). 2019 Aug;25(4):1043-1065. doi: 10.1212/CON.0000000000000762. PMID: 31393354.
* Aartsma-Rus A, van Putten M, Vroom E. Advances in therapeutic strategies for muscular dystrophies. Nat Rev Drug Discov. 2021 May;20(5):371-398. doi: 10.1038/s41573-021-00162-4. PMID: 33767353.
* Lohr K, Bönnemann CG, Kirschner J, et al. Inherited muscle disorders: a comprehensive review of clinical features, genetic defects, and therapeutic approaches. Orphanet J Rare Dis. 2021 Jul 15;16(1):310. doi: 10.1186/s13023-021-01934-2. PMID: 34266497.
* D'Amico A, Lofra RM, Catino C, et al. Multidisciplinary Care for Muscular Dystrophies. Curr Opin Neurol. 2017 Oct;30(5):540-545. doi: 10.1097/WCO.0000000000000492. PMID: 28723617.
Q.
Is it Muscular Dystrophy? Why your muscles are wasting and vital medical next steps.
A.
Muscle wasting can be caused by muscular dystrophy or by more common and often treatable issues like disuse, aging, nerve disorders, chronic illness, and hormonal or inflammatory muscle disease. There are several factors to consider. See below to understand more. Key next steps include tracking symptoms and family history and scheduling a prompt medical evaluation for strength testing, CK bloodwork, genetic testing, EMG, and possibly a biopsy. Seek urgent care for rapid weakness, breathing or swallowing problems, chest pain, fainting, or sudden inability to walk; complete guidance is outlined below.
References:
* Mahajan S, Kaur J, Yadav R, Saini R, Singh B, Arora K, Singh A. Diagnosis of Muscular Dystrophies: Challenges and Advances. *J Clin Diagn Res*. 2020 Sep;14(9):OE01-OE05. https://pubmed.ncbi.nlm.nih.gov/32970638/
* Stojkovic T, Klein JP, Adams JP, Sindelar SH, Van Koningsveld RA. Differential diagnosis of muscle weakness: an approach for the non-neurologist. *Handb Clin Neurol*. 2017;145:25-39. https://pubmed.ncbi.nlm.nih.gov/28807850/
* Guglieri M, Scoto M. Genetic Testing for Muscular Dystrophies. *Semin Neurol*. 2020 Jun;40(3):289-299. https://pubmed.ncbi.nlm.nih.gov/32297926/
* Finsterer J, Stöllberger C. Clinical approach to proximal muscle weakness. *J Neurol Sci*. 2021 May 15;424:117409. https://pubmed.ncbi.nlm.nih.gov/33827083/
* Bello L, Renard A. Muscular dystrophies: a general overview. *Rev Med Suisse*. 2023 Apr 5;19(822):702-706. https://pubmed.ncbi.nlm.nih.gov/37025983/
Q.
Life after 60: How to lose face fat
A.
There are several factors to consider: you cannot spot reduce, so slimming a fuller face after 60 relies on overall fat loss with a modest calorie deficit, regular cardio and strength training, good hydration and sleep, lower salt and added sugar, and skin-supportive care. Optional facial exercises or massage, noninvasive treatments like radiofrequency or deoxycholic acid, and surgical options may help in select cases, and new rapid swelling or other symptoms should prompt medical advice; see below for the complete guidance and important details that can shape your next steps.
References:
Jakicic JM, & Wing RR. (2003). Effects of exercise duration and intensity on weight loss in overweight, sedentary women: a randomized trial… JAMA, 12633172.
Wai CT, & Greenson JK. (2003). A simple noninvasive index can predict both significant fibrosis and cirrhosis in patients with chronic hepatitis C… Hepatology, 12919926.
Sandrin L, & Fourquet B. (2003). Transient elastography: a new noninvasive method for assessment of hepatic fibrosis… Ultrasound Med Biol, 14698383.
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Link to full study:
https://www.medrxiv.org/content/10.1101/2024.08.29.24312810v1Butterfield 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.aspxHarmelink 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%3DihubHarper PS. Myotonic Dystrophy, 3rd ed, WB Saunders, London 2001.
https://academic.oup.com/brain/article/125/8/1225/332406Narayanaswami 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/