View source for Muscular dystrophy

{{Short description|Diseases in which skeletal and visceral muscles breaks down over time}}
{{Infobox medical condition (new)
| name = Muscular dystrophy
| synonym = Muscle dysfunction
| image = MuscularDystrophy.png
| caption = In affected muscle (right), the tissue has become disorganized and the concentration of [[dystrophin]] (green) is greatly reduced, compared to normal muscle (left).
| field = [[Neuromuscular disorders|Neuromuscular medicine]]
| symptoms = Increasing weakening, breakdown of [[skeletal muscles]], trouble walking<ref name=NIH2016/><ref name=NIH2016Re/>
| complications = 
| onset = 
| duration = Chronic<ref name=NIH2016/>
| types = > 30, including [[Duchenne muscular dystrophy]], [[Becker muscular dystrophy]], [[facioscapulohumeral muscular dystrophy]], [[limb–girdle muscular dystrophy]], [[myotonic dystrophy]]<ref name=NIH2016/><ref name=NIH2016Re/>
| causes = [[Genetics|Genetic]] ([[X-linked recessive]], [[autosomal recessive]], or [[autosomal dominant]])<ref name=NIH2016Re/>
| risks = 
| diagnosis = [[Genetic testing]]<ref name=NIH2016Re/>
| differential = 
| prevention = 
| treatment = [[Pharmacotherapy]], [[physical therapy]], [[orthopedic brace|braces]], corrective [[surgery]], [[assisted ventilation]]<ref name=NIH2016/><ref name=NIH2016Re/>
| medication = 
| prognosis = Depends on the particular disorder<ref name=NIH2016/>
| frequency = 
| deaths = 
}}
<!-- Definition and symptoms -->

'''Muscular dystrophy''' ('''MD''') is a genetically and clinically heterogeneous group of rare [[neuromuscular disease]]s that cause progressive weakness and breakdown of [[skeletal muscles]] over time.<ref name=NIH2016/> The disorders differ as to which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin.<ref name=NIH2016/> Some types are also associated with problems in other [[human organs|organs]].<ref name="NIH2016Re">{{cite web|date=March 4, 2016|title=Muscular Dystrophy: Hope Through Research|url=http://www.ninds.nih.gov/disorders/md/detail_md.htm#180483171|url-status=dead|archive-url=https://web.archive.org/web/20160930165657/http://www.ninds.nih.gov/disorders/md/detail_md.htm#180483171|archive-date=30 September 2016|access-date=12 September 2016|website=NINDS}}</ref><!-- Other symptoms include...  lung weakness, and cardiomyopathy -->

<!-- Cause and diagnosis -->
Over 30 different disorders are classified as muscular dystrophies.<ref name=NIH2016/><ref name=NIH2016Re/> Of those, [[Duchenne muscular dystrophy]] (DMD) accounts for approximately 50% of cases and affects males beginning around the age of four.<ref name=NIH2016/> Other relatively common muscular dystrophies include [[Becker muscular dystrophy]], [[facioscapulohumeral muscular dystrophy]], and [[myotonic dystrophy]],<ref name=NIH2016/> whereas [[limb–girdle muscular dystrophy]] and [[congenital muscular dystrophy]] are themselves groups of several – usually extremely rare – genetic disorders.

Muscular dystrophies are caused by [[mutation]]s in [[gene]]s, usually those involved in making muscle proteins.<ref name="NIH2016Re" /> The muscle protein [[dystrophin]] is in most muscle cells and works to strengthen the muscle fibers and protect them from injury as muscles contract and relax.<ref>{{Cite book |title=Comprehensive Physiology |date=2011-01-17 |publisher=Wiley |isbn=978-0-470-65071-4 |editor-last=Terjung |editor-first=Ronald |edition=1 |language=en |doi=10.1002/cphy.c140048 |pmc=4767260 |pmid=26140716 |last1=Gao |first1=Q. Q. |last2=McNally |first2=E. M. |volume=5 |issue=3 |pages=1223–1239 }}</ref> It links the muscle membrane to the thin muscular filaments within the cell. Dystrophin is an integral part of the muscular structure. An absence of dystrophin can cause impairments: healthy muscle tissue can be replaced by fibrous tissue and fat, causing an inability to generate force.<ref>{{Cite journal |last1=Gao |first1=Quan Q. |last2=McNally |first2=Elizabeth M. |date=2015-06-24 |title=The Dystrophin Complex: Structure, Function, and Implications for Therapy |url=http://dx.doi.org/10.1002/cphy.c140048 |journal=Comprehensive Physiology |volume=5 |issue=3 |pages=1223–1239 |doi=10.1002/cphy.c140048 |pmc=4767260 |pmid=26140716|isbn=9780470650714 }}</ref> Respiratory and cardiac complications can occur as well. These mutations are either [[Heredity|inherited from parents]] or may occur [[De novo mutation|spontaneously]] during [[human embryogenesis|early development]].<ref name="NIH2016Re" /> Muscular dystrophies may be [[X-linked recessive]], [[autosomal recessive]], or [[autosomal dominant]].<ref name="NIH2016Re" /> Diagnosis often involves [[blood tests]] and [[genetic testing]].<ref name="NIH2016Re" />

<!-- Treatment and prognosis -->
There is no cure for any disorder from the muscular dystrophy group.<ref name="NIH2016" /> Several drugs designed to address the root cause are currently available including [[gene therapy]] ([[Delandistrogene moxeparvovec|Elevidys]]), and [[Antisense therapy|antisense drugs]] ([[Ataluren]], [[Eteplirsen]] etc.).<ref name="NIH2016Re" /> Other medications used include [[glucocorticoid]]s ([[Deflazacort]], [[Vamorolone]]); [[calcium channel blockers]] ([[Diltiazem]]); to slow skeletal and cardiac muscle degeneration, [[anticonvulsants]] to control [[seizure]]s and some muscle activity, and [[Histone deacetylase inhibitor]]s ([[Givinostat]]) to delay damage to dying [[muscle cell]]s.<ref name="NIH2016" /> [[Physical therapy]], [[orthopedic brace|braces]], and corrective [[surgery]] may help with some symptoms<ref name="NIH2016" /> while [[assisted ventilation]] may be required in those with weakness of [[breathing muscles]].<ref name="NIH2016Re" />

Outcomes depend on the specific type of disorder.<ref name=NIH2016>{{cite web|title=NINDS Muscular Dystrophy Information Page|url=http://www.ninds.nih.gov/disorders/md/md.htm|website=NINDS|access-date=12 September 2016|date=March 4, 2016|url-status=dead|archive-url=https://web.archive.org/web/20160730004520/http://www.ninds.nih.gov/disorders/md/md.htm|archive-date=30 July 2016}}</ref> Many affected people will eventually become unable to walk<ref name=NIH2016Re/> and Duchenne muscular dystrophy in particular is associated with shortened life expectancy.

<!-- Epidemiology, history, and culture -->Muscular dystrophy was first described in the 1830s by [[Charles Bell]].<ref name="NIH2016Re" /> The word "dystrophy" comes from the Greek ''dys'', meaning "no, un-" and ''troph-'' meaning "nourish".<ref name="NIH2016Re" />

==Signs and symptoms==
[[File:Gould Pyle 216.jpg|thumb|Severe limb deformities and [[contractures]] indicative of muscular dystrophy]]
The signs and symptoms consistent with muscular dystrophy are:<ref>{{EMedicine|article|1259041|Muscular Dystrophy Clinical Presentation}}</ref>{{columns-list|colwidth=22em|
* Progressive muscular wasting
* Poor balance
* [[Scoliosis]] (abnormal curvature of the spine or the back)<ref name=Elsobky2024>{{cite journal |last1=El-Sobky |first1=Tamer A. |last2=Abdulhady |first2=Hala |last3=Mahmoud |first3=Shady |last4=Amen |first4=John |title=Orthopedic manifestations of congenital muscular dystrophy subtypes in children: Emerging signatures need consolidation: a scoping review |journal=Journal of Musculoskeletal Surgery and Research |date=31 January 2024 |volume=8 |pages=11–23 |doi=10.25259/JMSR_229_2023}}</ref>
* [[Muscle contracture]] leads to limited range of movement of joints.<ref name=Elsobky2024/>
* [[Muscle spasms]]
* Progressive inability to walk
* [[Waddling gait]]
* [[Gowers' sign]] as in Duchenne muscular dystrophy.
* Calf deformation as in Duchenne muscular dystrophy.
* [[Respiratory]] difficulty <ref>{{cite journal |last1=Birnkrant |first1=DJ |last2=Bushby |first2=K |last3=Bann |first3=CM |last4=Alman |first4=BA |last5=Apkon |first5=SD |last6=Blackwell |first6=A |last7=Case |first7=LE |last8=Cripe |first8=L |last9=Hadjiyannakis |first9=S |last10=Olson |first10=AK |last11=Sheehan |first11=DW |last12=Bolen |first12=J |last13=Weber |first13=DR |last14=Ward |first14=LM |title=Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. |journal=The Lancet. Neurology |date=April 2018 |volume=17 |issue=4 |pages=347–361 |doi=10.1016/S1474-4422(18)30025-5 |pmid=29395990|pmc=5889091 }}</ref>
* [[Cardiomyopathy]]<ref>{{cite journal |last1=Bădilă |first1=E |last2=Lungu |first2=II |last3=Grumezescu |first3=AM |last4=Scafa Udriște |first4=A |last5=Rosenthal |first5=David |last6=Duboc |first6=Denis |last7=Melacini |first7=Paola |title=Diagnosis of Cardiac Abnormalities in Muscular Dystrophies. |journal=Medicina (Kaunas, Lithuania) |date=12 May 2021 |volume=57 |issue=5 |page=488 |doi=10.3390/medicina57050488 |doi-access=free |pmid=34066119|pmc=8151418 }}</ref>

}}

==Causes==
The majority of muscular dystrophies are [[Heredity|inherited]]; the different muscular dystrophies follow various inheritance patterns ([[X-linked]], [[Autosomal Recessive|autosomal recessive]] or [[autosomal dominant]]). In a small percentage of patients, the disorder may have been caused by a [[spontaneous mutation|''de novo'' (spontaneous) mutation]].<ref>{{cite web|url=http://www.nhs.uk/Conditions/Muscular-dystrophy/Pages/Causes.aspx|title=Muscular dystrophy - Causes - NHS Choices|last=Choices|first=NHS|website=www.nhs.uk|access-date=2016-04-10|url-status=live|archive-url=https://web.archive.org/web/20160402141504/http://www.nhs.uk/conditions/Muscular-dystrophy/pages/causes.aspx|archive-date=2016-04-02}}</ref><ref>{{cite book |last1=Griffiths |first1=Anthony JF |last2=Miller |first2=Jeffrey H. |last3=Suzuki |first3=David T. |last4=Lewontin |first4=Richard C. |last5=Gelbart |first5=William M. |title=Spontaneous mutations |date=2000 |url=https://www.ncbi.nlm.nih.gov/books/NBK21897/ |archive-url=https://web.archive.org/web/20120126012307/http://www.ncbi.nlm.nih.gov/books/NBK21897/ |url-status=dead |archive-date=January 26, 2012 }}{{page needed|date=January 2020}}</ref>

==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.<ref>{{cite web|url=https://www.nichd.nih.gov/health/topics/musculardys/conditioninfo/diagnosed|title=NIH /How is muscular dystrophy diagnosed?|date=2015|website=NIH.gov|publisher=NIH|access-date=10 April 2016|url-status=live|archive-url=https://web.archive.org/web/20160407124113/https://www.nichd.nih.gov/health/topics/musculardys/conditioninfo/pages/diagnosed.aspx|archive-date=7 April 2016}}</ref>

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.<ref>{{Cite journal |last=Emery |first=Alan EH |date=2002-02-23 |title=The muscular dystrophies |url=https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(02)07815-7/fulltext |journal=The Lancet |language=English |volume=359 |issue=9307 |pages=687–695 |doi=10.1016/S0140-6736(02)07815-7 |issn=0140-6736 |pmid=11879882|s2cid=31578361 |url-access=subscription }}</ref>

===Classification===
{| class="wikitable"
|-
! Disorder name
![[OMIM]]
! Gene
!Inheritance pattern
!Age of onset
!Muscles affected
! Description
|-
|'''[[Becker muscular dystrophy]]'''
|{{OMIM|300376||none}}
|''[[Dystrophin|DMD]]''
|[[X-linked recessive inheritance|XR]]
|Childhood
|Distal limbs progressing to generalised weakness
| A less severe variant of [[Duchenne muscular dystrophy]],<ref name="2006 report to Congress">[http://www.ninds.nih.gov/about_ninds/groups/mdcc/md_care_implementation.pdf May 2006 report to Congress] {{webarchive|url=https://web.archive.org/web/20140405023440/http://www.ninds.nih.gov/about_ninds/groups/mdcc/md_care_implementation.pdf|date=2014-04-05}} on Implementation of the [[MD CARE Act]], as submitted by Department of Health and Human Service's [[National Institutes of Health]]</ref> affects predominantly boys.
|-
|'''[[Congenital muscular dystrophy]]'''
| Multiple
| Multiple
|[[Autosomal dominant inheritance|AD]], [[Autosomal recessive inheritance|AR]]
|At birth
|Generalised weakness
| Symptoms include general muscle weakness and possible joint deformities. Disease progresses slowly, and lifespan is shortened.
Congenital muscular dystrophy includes several disorders with a range of symptoms. Muscle degeneration may be mild or severe. Problems may be restricted to [[skeletal muscle]], or muscle degeneration may be paired with effects on the brain and other organ systems.<ref>{{EMedicine|article|1180214|Congenital Muscular Dystrophy|clinical}}</ref>

Several forms of the congenital muscular dystrophies are caused by defects in proteins thought to have some relationship to the dystrophin-glycoprotein complex and to the connections between muscle cells and their surrounding cellular structure. Some forms of congenital muscular dystrophy show severe brain malformations, such as [[lissencephaly]] and [[hydrocephalus]].<ref name="2006 report to Congress" />
|-
|'''[[Duchenne muscular dystrophy]]'''
|{{OMIM|310200||none}}
|''[[Dystrophin|DMD]]''
|[[X-linked recessive inheritance|XR]]
|Childhood
|Distal limbs progressing to generalised weakness, involving respiratory muscles
| The most common childhood form of muscular dystrophy, affects predominantly boys (mild symptoms may occur in female carriers). Characterised by progressive muscle wasting. Clinical symptoms become evident when the child begins walking. By age 10, the child may need braces and by age 12, most patients are unable to walk.<ref name="MedlinePlusEncyclopedia000705">{{Cite web|url=https://medlineplus.gov/ency/article/000705.htm|title=Duchenne muscular dystrophy: MedlinePlus Medical Encyclopedia|website=medlineplus.gov|language=en|access-date=2017-03-14|url-status=live|archive-url=https://web.archive.org/web/20170405014656/https://medlineplus.gov/ency/article/000705.htm|archive-date=2017-04-05}}</ref> Typical lifespans range from 15 to 45.<ref name="MedlinePlusEncyclopedia000705" /> Sporadic mutations in this gene occur frequently.<ref>{{cite web |url=http://patient.info/health/duchenne-muscular-dystrophy-leaflet |title=Duchenne Muscular Dystrophy. What is muscular dystrophy? &#124; Patient |website=Patient.info |date=2016-04-15 |access-date=2017-03-14 |url-status=live |archive-url=https://web.archive.org/web/20161202094502/http://patient.info/health/duchenne-muscular-dystrophy-leaflet |archive-date=2016-12-02 }}</ref>
|-
|'''[[Distal muscular dystrophy]]'''
|{{OMIM|254130||none}}
|''[[Dysferlin|DYSF]]''
|[[Autosomal dominant inheritance|AD]], [[Autosomal recessive inheritance|AR]]
|20–60 years
|Distal muscles in hands, forearms and lower legs
| Progress is slow and not life-threatening.<ref>{{cite book |last1=Udd |first1=Bjarne |chapter=Distal muscular dystrophies |title=Handbook of Clinical Neurology |volume=101 |pages=239–62 |year=2011 |pmid=21496636 |doi=10.1016/B978-0-08-045031-5.00016-5 |isbn=978-0-08-045031-5 }}</ref>

Miyoshi myopathy, one of the distal muscular dystrophies, causes initial weakness in the calf muscles, and is caused by defects in the same gene responsible for one form of [[limb–girdle muscular dystrophy]].<ref name="2006 report to Congress" />
|-
|'''[[Emery–Dreifuss muscular dystrophy]]'''
|Multiple
|Multiple
|[[X-linked recessive inheritance|XR]], [[Autosomal dominant inheritance|AD]], [[Autosomal recessive inheritance|AR]]
|Childhood, early teenage years
|Distal limb muscles, limb-girdle, heart
| Symptoms include muscle weakness and wasting, starting in the distal limb muscles and progressing to involve the limb–girdle muscles. Most patients also have cardiac conduction defects and arrhythmias.<ref>{{cite web |url=http://www.omim.org/entry/310300 |archive-url=https://web.archive.org/web/20170310151551/http://www.omim.org/entry/310300 |url-status=dead |archive-date=2017-03-10 |title=OMIM Entry - # 310300 - EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1 |website=Omim.org |access-date=2017-03-14 }}</ref><ref>{{cite web |url=https://medlineplus.gov/genetics/condition/emery-dreifuss-muscular-dystrophy/ |title=Emery-Dreifuss muscular dystrophy - Genetics Home Reference |website=Ghr.nlm.nih.gov |date=2017-03-07 |access-date=2017-03-14 |url-status=live |archive-url=https://web.archive.org/web/20170312112220/https://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy |archive-date=2017-03-12 }}</ref>
|-
|'''[[Facioscapulohumeral muscular dystrophy]]'''
|{{OMIM|158900||none}}
|''[[DUX4]]''
|[[Autosomal dominant inheritance|AD]]
|Adolescence
|Face, shoulders, upper arms, progressing to other muscles
| Causes progressive weakness, initially in the muscles of the face, shoulders, and upper arms. Additional muscles are often affected.<ref>{{cite web |url=https://medlineplus.gov/genetics/condition/facioscapulohumeral-muscular-dystrophy/ |title=facioscapulohumeral muscular dystrophy - Genetics Home Reference |website=Ghr.nlm.nih.gov |access-date=2017-03-14 |url-status=live |archive-url=https://web.archive.org/web/20170324203921/https://ghr.nlm.nih.gov/condition/facioscapulohumeral-muscular-dystrophy |archive-date=2017-03-24 }}</ref> Affected individuals can become severely disabled, with 20% requiring a wheelchair by age 50.<ref name="FSHD 2016 Review Article">{{cite journal |last1=Statland |first1=JM |last2=Tawil |first2=R |title=Facioscapulohumeral Muscular Dystrophy. |journal=Continuum (Minneapolis, Minn.) |date=December 2016 |volume=22 |issue=6, Muscle and Neuromuscular Junction Disorders |pages=1916–1931 |doi=10.1212/CON.0000000000000399 |pmid=27922500|pmc=5898965 }}</ref> 30% of cases involve spontaneous mutations.<ref name="FSHD 2016 Review Article" /> Penetrance and severity seem to be lower in females compared to males.<ref name="FSHD 2016 Review Article" /><ref>{{cite web |url=https://www.medlineplus.gov/ency/article/000707.htm |title=Facioscapulohumeral muscular dystrophy: MedlinePlus Medical Encyclopedia |website=Nlm.nih.gov |date=2017-03-09 |access-date=2017-03-14 |url-status=live |archive-url=https://web.archive.org/web/20160704222205/https://www.nlm.nih.gov/medlineplus/ency/article/000707.htm |archive-date=2016-07-04 }}</ref>
|-
|'''[[Limb–girdle muscular dystrophy]]'''
| Multiple
| Multiple
|[[Autosomal dominant inheritance|AD]], [[Autosomal recessive inheritance|AR]]
|Any
|Upper arms and legs
| The person normally leads a normal life with some assistance. Rare cardiopulmonary complications can be life-threatening.<ref>{{cite book|last=Jenkins|first=Simon P.R.|title=Sports Science Handbook:I - Z.|year=2005|publisher=Multi-Science Publ. Co.|location=Brentwood, Essex|isbn=978-0906522-37-0|page=121}}</ref>
|-
|'''[[Myotonic muscular dystrophy]]'''
|{{OMIM|160900||none}}{{break}}{{OMIM|602668||none}}
|''[[Myotonin-protein kinase|DMPK]]''{{break}}''[[CNBP]]''
|[[Autosomal dominant inheritance|AD]]
|Adulthood
|Skeletal muscles, heart, other muscle groups
| Presents with [[myotonia]] (delayed relaxation of muscles), as well as muscle wasting and weakness.<ref name="Turner">{{cite journal |last1=Turner |first1=C. |last2=Hilton-Jones |first2=D. |title=The myotonic dystrophies: diagnosis and management |journal=Journal of Neurology, Neurosurgery & Psychiatry |volume=81 |issue=4 |pages=358–67 |year=2010 |pmid=20176601 |doi=10.1136/jnnp.2008.158261 |s2cid=2453622 |url=http://jnnp.bmj.com/content/jnnp/81/4/358.full.pdf |doi-access=free }}</ref> Varies in severity and manifestations and affects many body systems in addition to skeletal muscles, including the heart, endocrine organs, and eyes.<ref>{{cite book|chapter-url=https://www.ncbi.nlm.nih.gov/books/NBK1165/|title=Myotonic Dystrophy Type 1 - GeneReviews® - NCBI Bookshelf|website=Ncbi.nlm.nih.gov|access-date=2017-03-14|url-status=live|archive-url=https://web.archive.org/web/20170118123627/https://www.ncbi.nlm.nih.gov/books/NBK1165/|archive-date=2017-01-18|chapter=Myotonic Dystrophy Type 1|publisher=University of Washington, Seattle|year=1993|pmid=20301344 |last1=Bird |first1=T. D. |last2=Adam |first2=M. P. |last3=Everman |first3=D. B. |last4=Mirzaa |first4=G. M. |last5=Pagon |first5=R. A. |last6=Wallace |first6=S. E. |author7=Bean LJH |last8=Gripp |first8=K. W. |last9=Amemiya |first9=A. }}</ref>
|-
|'''[[Oculopharyngeal muscular dystrophy]]'''
|{{OMIM|164300||none}}
|''[[PABPN1]]''
|[[Autosomal dominant inheritance|AD]], rarely [[Autosomal recessive inheritance|AR]]
|40–50 years
|Eye muscles, face, throat, pelvis, shoulders
|
|}

==Management==
[[File:Ankle Foot Orthosis leg brace worn on the left foot with ankle hinge.jpg|thumb|300px|Ankle foot orthosis]]
There is no cure for muscular dystrophy. In terms of management, [[physical therapy]], [[occupational therapy]], orthotic intervention (e.g., [[ankle-foot orthosis]]),<ref name=nih2/><ref>{{cite web|url=http://orthoinfo.aaos.org/topic.cfm?topic=a00384|title=Muscular Dystrophy-OrthoInfo - AAOS|website=orthoinfo.aaos.org|access-date=2016-04-10|url-status=live|archive-url=https://web.archive.org/web/20160412104023/http://www.orthoinfo.aaos.org/topic.cfm?topic=A00384|archive-date=2016-04-12}}</ref> speech therapy, and respiratory therapy may be helpful.<ref name="nih2">{{cite web|url=https://www.nichd.nih.gov/health/topics/musculardys/conditioninfo/treatment|title=What are the treatments for muscular dystrophy?|date=2015|website=NIH.gov|publisher=NIH|access-date=10 April 2016|url-status=live|archive-url=https://web.archive.org/web/20160407124142/https://www.nichd.nih.gov/health/topics/musculardys/conditioninfo/pages/treatment.aspx|archive-date=7 April 2016}}</ref> Low-intensity corticosteroids such as [[prednisone]], and [[deflazacort]] may help to maintain muscle tone.<ref>{{cite journal |last1=McAdam |first1=Laura C. |last2=Mayo |first2=Amanda L. |last3=Alman |first3=Benjamin A. |last4=Biggar |first4=W. Douglas |title=The Canadian experience with long term deflazacort treatment in Duchenne muscular dystrophy |journal=Acta Myologica |date=2012 |volume=31 |issue=1 |pages=16–20 |pmid=22655512 |pmc=3440807 }}</ref> [[Orthosis|Orthoses]] (orthopedic appliances used for support) and corrective [[orthopedic surgery]] may be needed to improve the quality of life in some cases.<ref name=NIH2016Re/> The cardiac problems that occur with Emery–Dreifuss muscular dystrophy (EDMD) and myotonic muscular dystrophy may require a [[artificial pacemaker|pacemaker]].<ref>{{cite journal |last1=Verhaert |first1=David |last2=Richards |first2=Kathryn |last3=Rafael-Fortney |first3=Jill A. |last4=Raman |first4=Subha V. |title=Cardiac Involvement in Patients With Muscular Dystrophies |journal=Circulation: Cardiovascular Imaging |date=January 2011 |volume=4 |issue=1 |pages=67–76 |doi=10.1161/CIRCIMAGING.110.960740 |pmid=21245364 |pmc=3057042 }}</ref> The [[myotonia]] (delayed relaxation of a muscle after a strong contraction) occurring in myotonic muscular dystrophy may be treated with medications such as quinine.<ref>{{cite book |last1=Eddy |first1=Linda L. |title=Caring for Children with Special Healthcare Needs and Their Families: A Handbook for Healthcare Professionals |date=2013 |publisher=John Wiley & Sons |isbn=978-1-118-51797-0 }}{{page needed|date=January 2020}}</ref>

Low-intensity assisted exercises, dynamic exercise training, or assisted bicycle training of the arms and legs during a 24-week trial were shown to significantly delay the functional loss of muscular dystrophy. These therapies may be performed in a safe and feasible manner, even for children in their ambulation stages. However, eccentric or intense exercises causing soreness should not be used, as they can cause further damage.<ref>{{Cite journal |doi=10.1177/1545968313496326 |pmid=23884013 |title=Assisted Bicycle Training Delays Functional Deterioration in Boys with Duchenne Muscular Dystrophy |year=2013 |last1=Jansen |first1=Merel |last2=Van Alfen |first2=Nens |last3=Geurts |first3=Alexander C. H. |last4=De Groot |first4=Imelda J. M. |journal=Neurorehabilitation and Neural Repair |volume=27 |issue=9 |pages=816–827 |s2cid=9990910 }}</ref>

Occupational therapy assists the patient 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 that may accompany MD, and provides support and education about the disease to the family and patient.<ref>{{cite book |first1=R. M. |last1=Lehman |first2=G. L. |last2=McCormack |year=2001 |chapter=Neurogenic and Myopathic Dysfunction |pages=802–3 |editor1-first=Lorraine Williams |editor1-last=Pedretti |editor2-first=Mary Beth |editor2-last=Early |title=Occupational Therapy: Practice Skills for Physical Dysfunction |edition=5th |publisher=Mosby |isbn=978-0-323-00765-8}}</ref>

==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.<ref name=NIH2016Re/>

==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,<ref>{{cite journal |last1=Laing |first1=Nigel G |last2=Davis |first2=Mark R |last3=Bayley |first3=Klair |last4=Fletcher |first4=Sue |last5=Wilton |first5=Steve D |title=Molecular Diagnosis of Duchenne Muscular Dystrophy: Past, Present and Future in Relation to Implementing Therapies |journal=The Clinical Biochemist Reviews |date=2011 |volume=32 |issue=3 |pages=129–134 |pmid=21912442 |pmc=3157948 }}</ref> French neurologist [[Guillaume Duchenne]] published a comprehensive account of the most common and severe form of the disease, which now carries his name.<ref>{{Cite web|url=https://www.ninds.nih.gov/health-information/disorders/muscular-dystrophy|title=Muscular Dystrophy: Hope Through Research|date=23 March 2020|website=[[National Institute of Neurological Disorders and Stroke]]|access-date=7 April 2020}}</ref>

== Society and culture ==
In 1966 in the U.S. and Canada, [[Jerry Lewis]] and the [[Muscular Dystrophy Association]] (MDA) began the annual [[Labor Day]] telecast ''[[The Jerry Lewis MDA Labor Day Telethon|The Jerry Lewis Telethon]]'', significant in raising awareness of muscular dystrophy in North America. Some disability-rights advocates have criticized the telethon for portraying victims of the disease as deserving pity rather than respect.<ref>{{cite journal|last=Berman |first=Ari |url=http://www.thenation.com/blog/163119/end-jerry-lewis-telethon-its-about-time |title=The End of the Jerry Lewis Telethon—It's About Time |journal=The Nation |date=2011-09-02 |access-date=2017-03-14}}</ref>

On December 18, 2001, the [[MD CARE Act]] was signed into law in the United States. The law amends the [[Public Health Service Act]] to provide research for the various muscular dystrophies and established the [[Muscular Dystrophy Coordinating Committee]] to help focus research efforts through a coherent research strategy.<ref name="govtrack">[http://www.govtrack.us/congress/bill.xpd?bill=h107-717 H.R. 717--107th Congress (2001)] {{webarchive|url=https://web.archive.org/web/20120219184941/http://www.govtrack.us/congress/bill.xpd?bill=h107-717 |date=2012-02-19 }}: MD-CARE Act, GovTrack.us (database of federal legislation), (accessed Jul 29, 2007)</ref><ref name="PL107-84">[http://history.nih.gov/01Docs/historical/documents/PL107-84.pdf Public Law 107-84] {{webarchive|url=https://web.archive.org/web/20121107002224/http://history.nih.gov/01Docs/historical/documents/PL107-84.pdf |date=2012-11-07 }}, PDF as retrieved from [[NIH]] website</ref>

== Research and advocacy ==
The [[Muscular Dystrophy Association]] (MDA) is involved in research, advocacy, and services for individuals affected by muscular dystrophy. The organization provides resources that contribute to understanding and addressing this condition.

==See also==
{{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==
* {{cite journal |last1=De Los Angeles Beytía |first1=Maria |last2=Vry |first2=Julia |last3=Kirschner |first3=Janbernd |title=Drug treatment of Duchenne musculardystrophy: available evidence and perspectives |journal=Acta Myologica |date=2012 |volume=31 |issue=1 |pages=4–8 |pmid=22655510 |pmc=3440798 }}
* {{cite journal |last1=Bertini |first1=Enrico |last2=D'Amico |first2=Adele |last3=Gualandi |first3=Francesca |last4=Petrini |first4=Stefania |title=Congenital Muscular Dystrophies: A Brief Review |journal=Seminars in Pediatric Neurology |date=December 2011 |volume=18 |issue=4 |pages=277–288 |doi=10.1016/j.spen.2011.10.010 |pmid=22172424 |pmc=3332154 }}

== External links ==
{{Scholia|topic}}
{{Commons}}	

{{Medical resources
|  DiseasesDB     =
|  ICD11          = {{ICD11|8C70}}
|  ICD10          = {{ICD10|G71.0}}
|  ICD9           = {{ICD9|359.0}}–{{ICD9|359.1}}
|  ICDO           =
|  OMIM           =
|  MedlinePlus    = 001190
|  eMedicineSubj  = orthoped
|  eMedicineTopic = 418
|  MeshID         = D009136
}}
{{Muscular Dystrophy}}
{{Diseases of myoneural junction and muscle}}
{{Authority control}}

{{DEFAULTSORT:Muscular Dystrophy}}
[[Category:Muscular dystrophy| ]]
[[Category:Myoneural junction and neuromuscular diseases]]
[[Category:Wikipedia medicine articles ready to translate]]

[[no:Duchenne muskeldystrofi]]