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muscular dystrophy
please note:
- the content below is remote from Wikipedia
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{{Short description|Genetic disorder}}- the content below is remote from Wikipedia
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Signs and symptoms
File:Gould Pyle 216.jpg|thumb|Severe limb deformities and contracturescontracturesThe signs and symptoms consistent with muscular dystrophy are:{{EMedicine|article|1259041|Muscular Dystrophy Clinical Presentation}}{hide}columns-list|colwidth=22em|- Progressive muscular wasting
- Poor balance
- Scoliosis (curvature of the spine and the back)
- Progressive inability to walk
- Waddling gait
- Calf deformation
- Limited range of movement
- Respiratory difficulty
- Cardiomyopathy
- Muscle spasms
- Gowers' sign
Causes
The majority of muscular dystrophies are inherited; the different muscular dystrophies follow various inheritance patterns (X-linked, autosomal recessive or autosomal dominant). In a small percentage of patients, the disorder may have been caused by a de novo (spontaneous) mutation.WEB,weblink Muscular dystrophy - Causes - NHS Choices, Choices, NHS, www.nhs.uk, 2016-04-10, live,weblink" title="web.archive.org/web/20160402141504weblink">weblink 2016-04-02, BOOK, Griffiths, Anthony JF, Miller, Jeffrey H., Suzuki, David T., Lewontin, Richard C., Gelbart, William M., Spontaneous mutations, 2000,weblink {{page needed|date=January 2020}}Diagnosis
The diagnosis of muscular dystrophy is based on the results of muscle biopsy, increased creatine phosphokinase (CpK3), electromyography, and genetic testing. A physical examination and the patient's medical history will help the doctor determine the type of muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophy.WEB,weblink NIH /How is muscular dystrophy diagnosed?, 2015, NIH.gov, NIH, 10 April 2016, live,weblink 7 April 2016, An MRI can be used to assess the white matter of the nervous system and measure the merosin levels in young boys. An absence of merosin in young boys will result with neurological deficits and changes in the white matter.JOURNAL, Emery, Alan EH, 2002-02-23, The muscular dystrophies,weblink The Lancet, English, 359, 9307, 687â695, 10.1016/S0140-6736(02)07815-7, 0140-6736, 11879882, 31578361,Classification{| class"wikitable"
Management
(File:Ankle Foot Orthosis leg brace worn on the left foot with ankle hinge.jpg|thumb|300px|Ankle foot orthosis)Currently, there is no cure for muscular dystrophy. In terms of management, physical therapy, occupational therapy, orthotic intervention (e.g., ankle-foot orthosis),WEB,weblink Muscular Dystrophy-OrthoInfo - AAOS, orthoinfo.aaos.org, 2016-04-10, live,weblink" title="web.archive.org/web/20160412104023weblink">weblink 2016-04-12, speech therapy, and respiratory therapy may be helpful.WEB,weblink What are the treatments for muscular dystrophy?, 2015, NIH.gov, NIH, 10 April 2016, live,weblink 7 April 2016, Low intensity corticosteroids such as prednisone, and deflazacort may help to maintain muscle tone.JOURNAL, McAdam, Laura C., Mayo, Amanda L., Alman, Benjamin A., Biggar, W. Douglas, The Canadian experience with long term deflazacort treatment in Duchenne muscular dystrophy, Acta Myologica, 2012, 31, 1, 16â20, 22655512, 3440807, Orthoses (orthopedic appliances used for support) and corrective orthopedic surgery may be needed to improve the quality of life in some cases. The cardiac problems that occur with EmeryâDreifuss muscular dystrophy (EDMD) and myotonic muscular dystrophy may require a pacemaker.JOURNAL, Verhaert, David, Richards, Kathryn, Rafael-Fortney, Jill A., Raman, Subha V., Cardiac Involvement in Patients With Muscular Dystrophies, Circulation: Cardiovascular Imaging, January 2011, 4, 1, 67â76, 10.1161/CIRCIMAGING.110.960740, 21245364, 3057042, The myotonia (delayed relaxation of a muscle after a strong contraction) occurring in myotonic muscular dystrophy may be treated with medications such as quinine.BOOK, Eddy, Linda L., Caring for Children with Special Healthcare Needs and Their Families: A Handbook for Healthcare Professionals, 2013, John Wiley & Sons, 978-1-118-51797-0, {{page needed|date=January 2020}}Low-intensity, assisted exercises, dynamic exercise training, or assisted bicycle training of the arms and legs during a 24-week trial significantly delayed the functional loss of muscular dystrophy. It can be done in a safe and feasible manner, even with boys late in their ambulation stage. However, eccentric exercises, or intense exercises causing soreness should not be used as they can cause further damage.JOURNAL, 10.1177/1545968313496326, 23884013, Assisted Bicycle Training Delays Functional Deterioration in Boys with Duchenne Muscular Dystrophy, 2013, Jansen, Merel, Van Alfen, Nens, Geurts, Alexander C. H., De Groot, Imelda J. M., Neurorehabilitation and Neural Repair, 27, 9, 816â827, 9990910, Occupational therapy assists the individual with MD to engage in activities of daily living (such as self-feeding and self-care activities) and leisure activities at the most independent level possible. This may be achieved with use of adaptive equipment or the use of energy-conservation techniques. Occupational therapy may implement changes to a person's environment, both at home or work, to increase the individual's function and accessibility; furthermore, it addresses psychosocial changes and cognitive decline which may accompany MD, and provides support and education about the disease to the family and individual.BOOK, R. M., Lehman, G. L., McCormack, 2001, Neurogenic and Myopathic Dysfunction, 802â3, Lorraine Williams, Pedretti, Mary Beth, Early, Occupational Therapy: Practice Skills for Physical Dysfunction, 5th, Mosby, 978-0-323-00765-8,Prognosis
Prognosis depends on the individual form of muscular dystrophy. Some dystrophies cause progressive weakness and loss of muscle function, which may result in severe physical disability and a life-threatening deterioration of respiratory muscles or heart. Other dystrophies do not affect life expectancy and only cause relatively mild impairment.History
In the 1860s, descriptions of boys who grew progressively weaker, lost the ability to walk, and died at an early age became more prominent in medical journals. In the following decade,JOURNAL, Laing, Nigel G, Davis, Mark R, Bayley, Klair, Fletcher, Sue, Wilton, Steve D, Molecular Diagnosis of Duchenne Muscular Dystrophy: Past, Present and Future in Relation to Implementing Therapies, The Clinical Biochemist Reviews, 2011, 32, 3, 129â134, 21912442, 3157948, French neurologist Guillaume Duchenne gave a comprehensive account of the most common and severe form of the disease, which now carries his name â Duchenne MD.WEB,weblink Muscular Dystrophy: Hope Through Research, 23 March 2020, National Institute of Neurological Disorders and Stroke, 7 April 2020,Society and culture
In 1966 in the US and Canada, Jerry Lewis and the Muscular Dystrophy Association (MDA) began the annual Labor Day telecast The Jerry Lewis Telethon, significant in raising awareness of muscular dystrophy in North America. Disability rights advocates, however, have criticized the telethon for portraying those living with the disease as deserving pity rather than respect.JOURNAL, Berman, Ari,weblink The End of the Jerry Lewis TelethonâIt's About Time, The Nation, 2011-09-02, 2017-03-14, On December 18, 2001, the MD CARE Act was signed into law in the US; it amends the Public Health Service Act to provide research for the various muscular dystrophies. This law also established the Muscular Dystrophy Coordinating Committee to help focus research efforts through a coherent research strategy.H.R. 717--107th Congress (2001) {{webarchive|url=https://web.archive.org/web/20120219184941weblink |date=2012-02-19 }}: MD-CARE Act, GovTrack.us (database of federal legislation), (accessed Jul 29, 2007)Public Law 107-84 {{webarchive|url=https://web.archive.org/web/20121107002224weblink |date=2012-11-07 }}, PDF as retrieved from NIH websiteSee also
{hide}columns-list|colwidth=30em|- Fukuyama congenital muscular dystrophy
- Muscle hypertrophy
- Muscular Dystrophy UK
- Muscular Dystrophy Association (United States)
- Muscular Dystrophy Canada
- Spinal muscular atrophies
References
{{Reflist}}Further reading
- JOURNAL, De Los Angeles BeytÃa, Maria, Vry, Julia, Kirschner, Janbernd, Drug treatment of Duchenne musculardystrophy: available evidence and perspectives, Acta Myologica, 2012, 31, 1, 4â8, 22655510, 3440798,
- JOURNAL, Bertini, Enrico, D'Amico, Adele, Gualandi, Francesca, Petrini, Stefania, Congenital Muscular Dystrophies: A Brief Review, Seminars in Pediatric Neurology, December 2011, 18, 4, 277â288, 10.1016/j.spen.2011.10.010, 22172424, 3332154,
External links
{{Scholia|topic}}- {{Curlie|/Health/Conditions_and_Diseases/Neurological_Disorders/Muscle_Diseases/Muscular_Dystrophies/|Muscular dystrophies}}
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