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  | OMIM_mult      = {{OMIM2|108120}} {{OMIM2|208100}} {{OMIM2|301830}} {{OMIM2|601701}} {{OMIM2|208200}} {{OMIM2|108200}} {{OMIM2|301830}} {{OMIM2|208155}} {{OMIM2|601680}} {{OMIM2|108145}} {{OMIM2|208085}}
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== [[Arthrogryposis causes|Causes]] ==
== [[Arthrogryposis causes|Causes]] ==


== [[Arthrogryposis differential diagnosis|Differential Diagnosis]] ==


== [[Arthrogryposis risk factors|Risk Factors]] ==


== [[Arthrogryposis natural history|Natural History, Complications and Prognosis]] ==  
== [[Arthrogryposis epidemiology and demographics|Epidemiology and Demographics]] ==
 
== [[Arthrogryposis natural history, complications and prognosis|Natural History, Complications and Prognosis]] ==  
== Diagnosis ==
== Diagnosis ==


[[Arthrogryposis history and symptoms|History and Symptoms]] | [[Arthrogryposis physical examination|Physical Examination]] |[[Arthrogryposis laboratory tests|Laboratory tests]] | [[Arthrogryposis electrocardiogram|ECG]]  | [[Arthrogryposis electroencephalogram|EEG]] | [[Arthrogryposis chest x ray|Chest X Ray]] |[[Arthrogryposis CT|CT]] | [[Arthrogryposis MRI|MRI]] |[[Arthrogryposis echocardiography or ultrasound|Echocardiography or Ultrasound]] |[[Arthrogryposis other imaging findings|Other imaging studies]] | [[Arthrogryposisother diagnostic studies|Alternative diagnostics]]
[[Arthrogryposis history and symptoms|History and Symptoms]] | [[Arthrogryposis physical examination|Physical Examination]] | [[Arthrogryposis laboratory findings|Laboratory Findings]] | [[Arthrogryposis chest x ray|Chest X Ray]] | [[Arthrogryposis CT|CT]] | [[Arthrogryposis MRI|MRI]] | [[Arthrogryposis echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Arthrogryposis other diagnostic studies|Other Diagnostic Studies]]  


== Treatment ==
== Treatment ==


[[Arthrogryposis medical therapy|Medical therapy]] | [[Arthrogryposis surgery|Surgical options]] | [[Arthrogryposisprevention|Prevention]] | [[Arthrogryposis cost-effectiveness of therapy|Financial costs]]| [[Arthrogryposis future or investigational therapies|Future therapies]]
[[Arthrogryposis medical therapy|Medical Therapy]] | [[Arthrogryposis surgery|Surgery]] | [[Arthrogryposis primary prevention| Primary Prevention]] | [[Arthrogryposis secondary prevention|Secondary Prevention]] | [[Arthrogyropsis cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Arthrogryposis future or investigational therapies|Future or Investigational Therapies]]
==Epidemiology and Demographics==
AMC is relatively rare occurring in 1 out of every 3,000 live births.<ref name=DPO /><ref name=Ortho />  Amyoplasia, characterized by fatty and fibrous tissue replacement of the limb muscles, is the most common form 43%.<ref>16. Hall JG. Arthrogryposis Multiplex Congenita: Etiology, Genetics, Classification, Diagnostic Approach, and General Aspects. Journal of Pediatric Orthopedics. 1997;6:159-166.</ref> The majority of affected individuals survive but a minority die, usually due to respiratory muscle involvement.
==Natural history, Complications and Prognosis==
===Complications===
Complications may include [[scoliosis]], [[lung hypoplasia]] leading to respiratory problems, [[growth retardation]], [[midfacial hemangioma]], facial and jaw deformities, respiratory problems, and abdominal hernias.
===Prognosis===
Individuals with AMC require vigorous therapy and surgical intervention. This however depends on severity.<ref name=DPO />  Since AMC is not a progressive disorder though, there are also positive factors as well including normal cognition and speech and a potential for functional mobility leading to a productive and independent lifestyle, adapting to specific situations as required by the individuals particular symptom.<ref>Hall JG. Amyoplasia, the most common type of Arthrogryposis: the potential for good outcome.  Pediatrics. 1996;97:225-231.</ref>
==Diagnosis==
There is a whole plethora of signs and symptoms for this group of diseases.<ref name=NLM />
 
Cognition and speech are usually normal.<ref name=DPO />
 
To date, no prenatal diagnostic tools are available to test for the condition. Diagnostic tools are only used to rule out other causes. This is done by undertaking muscle [[biopsies]], [[blood test]]s and general clinical findings which rule out other disorders and provides evidence for AMC.<ref name=DPO />
===Physical Examination===
Some of the more common physical examination findings are
*Shoulder (internal rotation deformity)
*Elbow (extension and pronation deformity)
*Wrist (volar and ulnar deformity)
*Hand (fingers in fixed flexion and thumb-in-palm deformity)
*Hip (flexed, abducted and externally rotated, often dislocated)
*Knee (flexion deformity) and foot ([[clubfoot]] deformity).<ref name=Ortho />
 
==Treatment==
While there is no cure, symptoms and deformities may still be alleviated with various methods due to multiple contractures and weakness.
*[[Physical therapy]] intervention including stretching (may include [[casting]] and [[splint]]ing program of affected joints), strengthening, mobility training, are undertaken to improve flexion and range of motion.
* [[Occupational therapy]] interventions can include training in ADL and fine motor skills as well as addressing psychosocial and emotional implications of a chronic condition.
*Since there is a variety of different deformities, individually tailored [[orthopaedic]] correction is needed.
*Orthopedic surgery is usually needed to correct severely affected joints and limbs and symptoms such as clubfoot, hernia repair and correction if unilateral hip dislocation occurs.<ref name=DPO />


==References==
==Case Studies==
{{reflist|2}}
:[[Arthrogyropsis case study one|Case #1]]


==External links==
*[http://www.amcsupport.org/ AMC Support], online forum for patients and their families
*[http://groups.yahoo.com/group/amc_adults/ E-mail discussion group for adults with amc]


{{Congenital malformations and deformations of musculoskeletal system}}
{{Congenital malformations and deformations of musculoskeletal system}}
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[[Category:Disease]]
[[Category:Disease]]


[[de:Arthrogryposis multiplex congenita]]
[[he:ארתרוגריפוזיס]]
[[tr:Artrogripozis]]


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Latest revision as of 17:51, 28 August 2012

Arthrogryposis
ICD-10 Q74.3
ICD-9 728.3, 728.3, 754.89
OMIM 108110 108120 208100 301830 601701 208200 108200 301830 208155 601680 108145 208085
DiseasesDB 31688 Template:DiseasesDB2

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Assosciate Editor(s)-In-Chief: Prashanth Saddala M.B.B.S

Synonyms and keywords: Arthrogryposis Multiplex Congenita, AMC.

Overview

Classification

Pathophysiology

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