|
|
| (53 intermediate revisions by 5 users not shown) |
| Line 1: |
Line 1: |
| {{Infobox_Disease | | __NOTOC__ |
| | {{Infobox_Disease | |
| | Name = Arthrogryposis | | | Name = Arthrogryposis |
| | Image = | | | Image = |
| Line 11: |
Line 12: |
| | OMIM_mult = {{OMIM2|108120}} {{OMIM2|208100}} {{OMIM2|301830}} {{OMIM2|601701}} {{OMIM2|208200}} {{OMIM2|108200}} {{OMIM2|301830}} {{OMIM2|208155}} {{OMIM2|601680}} {{OMIM2|108145}} {{OMIM2|208085}} | | | OMIM_mult = {{OMIM2|108120}} {{OMIM2|208100}} {{OMIM2|301830}} {{OMIM2|601701}} {{OMIM2|208200}} {{OMIM2|108200}} {{OMIM2|301830}} {{OMIM2|208155}} {{OMIM2|601680}} {{OMIM2|108145}} {{OMIM2|208085}} |
| | MedlinePlus = | | | MedlinePlus = |
| | eMedicineSubj = ped
| |
| | eMedicineTopic = 142
| |
| | MeshID = | | | MeshID = |
| }} | | }} |
| {{Search infobox}} | | {{Template:Arthrogryposis}} |
| {{CMG}} | | {{CMG}} '''Assosciate Editor(s)-In-Chief:''' [[User: Prashanthsaddala|Prashanth Saddala M.B.B.S]] |
|
| |
|
| {{Editor Help}} | | {{SK}} Arthrogryposis Multiplex Congenita, AMC. |
| ==Overview==
| | == [[Arthrogryposis overview|Overview]] == |
| '''Arthrogryposis''', also known as '''Arthrogryposis Multiplex Congenita''', is a rare [[congenital disorder]] that causes multiple [[joint]] [[contracture]]s and is characterized by [[muscle weakness]] and [[fibrosis]].
| |
| There are many known subgroups of AMC, with differing signs, symptoms, causes etc.<ref name=MED1 />. In some cases, few joints may be affected and the range of motion may be nearly normal. In the most common type of arthrogryposis, hands, wrists, elbows, shoulders, hips, feet and knees are affected. In the most severe types, nearly every joint is involved, including the jaw and back.
| |
|
| |
|
| Frequently, the contractures are accompanied by muscle weakness, which further limits movement. AMC is typically symmetrical and involves all four extremities with some variation seen.<ref name=DPO /><ref name=Artho />
| | == [[Arthrogryposis classification|Classification]] == |
|
| |
|
| ==Historical Perspective== | | == [[Arthrogryposis pathophysiology|Pathophysiology]] == |
| It is a non-progressive disease. The disease derives its name from Greek literally meaning 'curved or hooked joints'.
| |
| <ref name=Artho>http://www.arthrogryposis.ie/html/arthrogryposis.htm</ref><ref>http://www.kumc.edu/gec/support/arthrogr.html</ref>
| |
| <ref name=MED1>http://www.medterms.com/script/main/art.asp?articlekey=7533</ref>
| |
| <ref name=NLM>http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome039.html</ref>
| |
| <ref name=DPO>http://www.dpo.uab.edu/~birmie/amc.htm</ref>
| |
| <ref name=Alfonso>Alfonso, I., Papazian, O., Paez J.O., Grossman, J.A.I (2000). Arthrogryposis Multiplex Congenita. ''International Pediatrics'', 15, 4, 197-204.</ref>
| |
| <ref name= rar>http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Arthrogryposis%20Multiplex%20Congenita</ref>
| |
| <ref name=Ortho>http://www.orthoseek.com/articles/arthrogryposis.html</ref>
| |
| <ref name=MED2>http://www.medterms.com/script/main/art.asp?articlekey=7546</ref>
| |
| <ref>Donohue M, Bleakney DA. Arthrogryposis Multiplex Congenita. In: Campbell SK ed. Physical Therapy for Children. Philadelphia, PA: WB Saunders; 1995:261-277.</ref>
| |
|
| |
|
| ==Classification== | | == [[Arthrogryposis causes|Causes]] == |
| Some of the different types of AMC include:
| |
| *Arthrogryposis multiplex due to [[muscular dystrophy]].<ref>http://pediatrics.aappublications.org/cgi/content/abstract/22/5/875</ref><ref>{{cite journal |author=Banker B, Victor M, Adams R |title=Arthrogryposis multiplex due to congenital muscular dystrophy |journal=Brain |volume=80 |issue=3 |pages=319-34 |year=1957 |pmid=13471804}}</ref>
| |
| *Arthrogryposis [[ectodermal dysplasia]] other anomalies, also known as Cote Adamopoulos Pantelakis syndrome, Trichooculodermovertebral syndrome, TODV syndrome and Alves syndrome.<ref>{{RareDiseases|1553|Arthrogryposis and ectodermal dysplasia}}</ref><ref>{{cite journal |author=Stoll C, Alembik Y, Finck S, Janser B |title=Arthrogryposis, ectodermal dysplasia and other anomalies in two sisters |journal=Genet. Couns. |volume=3 |issue=1 |pages=35-9 |year=1992 |pmid=1590979}}</ref>
| |
| *Arthrogryposis epileptic seizures migrational brain disorder.<ref>http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1139</ref>
| |
| *Arthrogryposis IUGR thoracic dystrophy,also known as Van Bervliet syndrome.<ref>http://www.orpha.net//consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1156</ref><ref>{{RareDiseases|782|Arthrogryposis IUGR thoracic dystrophy}}</ref>
| |
| *Arthrogryposis like disorder, also known as Kuskokwim disease.<ref>http://ctd.mdibl.org/detail.go?type=disease&acc=208200</ref>
| |
| *Arthrogryposis-like hand anomaly and sensorineural deafness.<ref>http://ctd.mdibl.org/detail.go?type=disease&acc=108200</ref><ref>{{RareDiseases|784|Arthrogryposis-like hand anomaly and sensorineural deafness}}</ref>
| |
| *Arthrogryposis multiplex congenita CNS calcification.<ref>{{RareDiseases|785|Arthrogryposis multiplex congenita CNS calcification}}</ref>
| |
| *Arthrogryposis multiplex congenita distal (AMCD)<ref>http://acronyms.thefreedictionary.com/Arthrogryposis+Multiplex+Congenita,+Distal</ref>, with a large number of synonyms such as Arthrogryposis multiplex congenita, distal, x-linked (AMCX1)<ref>http://ctd.mdibl.org/detail.go?type=disease&acc=301830</ref><ref>http://acronyms.thefreedictionary.com/Arthrogryposis+Multiplex+Congenita,+Distal,+X-Linked</ref> and Arthrogryposis spinal muscular atrophy<ref>{{OMIM|301830}}</ref><ref>http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1141</ref><ref>http://cat.inist.fr/?aModele=afficheN&cpsidt=16634238</ref>
| |
| *Gordon Syndrome, also known as Distal Arthrogryposis, Type 2A.<ref>http://www.peacehealth.org/kbase/nord/nord507.htm</ref>
| |
| *Arthrogryposis multiplex congenita, distal type 2B, also known as Freeman-Sheldon syndrome variant.<ref>http://www.medinet.lk/journals/CMJ/2001/december/arthrogryposis.htm</ref>
| |
| *Arthrogryposis multiplex congenita neurogenic type (AMCN).<ref>http://acronyms.thefreedictionary.com/Arthrogryposis+Multiplex+Congenita,+Neurogenic+Type</ref> This particular type of AMC has been linked to the AMCN gene on [[locus]] 5q35.<ref>http://ctd.mdibl.org/detail.go?view=gene&type=disease&acc=208100</ref><ref>http://ctd.mdibl.org/detail.go?type=disease&acc=208100</ref> Its mode of inheritance follows the [[Autosomal recessive]] patern.<ref>{{cite journal |author=Rosenmann A, Arad I |title=Arthrogryposis multiplex congenita: neurogenic type with autosomal recessive inheritance |journal=J. Med. Genet. |volume=11 |issue=1 |pages=91-4 |year=1974 |pmid=4837288}}</ref>
| |
| *Arthrogryposis multiplex congenita pulmonary hypoplasia, also with a large number of synonyms.<ref>http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=994</ref><ref>{{cite journal |author=Leichtman L, Say B, Barber N |title=Primary pulmonary hypoplasia and arthrogryposis multiplex congenita |journal=J. Pediatr. |volume=96 |issue=5 |pages=950-1 |year=1980 |pmid=7365612}}</ref>
| |
| *Arthrogryposis multiplex congenita whistling face, also known as Illum syndrome.<ref>{{cite journal |author=Illum N, Reske-Nielsen E, Skovby F, Askjaer S, Bernsen A |title=Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system |journal=Neuropediatrics |volume=19 |issue=4 |pages=186-92 |year=1988 |pmid=3205375}}</ref><ref>http://ctd.mdibl.org/detail.go?type=disease&acc=208155</ref><ref>http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1150</ref><ref>{{RareDiseases|792|Arthrogryposis multiplex congenita whistling face}}</ref>
| |
| *Arthrogryposis multiplex congenita, distal type 1 (AMCD1).<ref>{{RareDiseases|787|Arthrogryposis multiplex congenita}}</ref>
| |
| *Arthrogryposis ophthalmoplegia retinopathy, also known as Oculomelic amyoplasia.<ref>http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1154</ref><ref>{{RareDiseases|793|Arthrogryposis ophthalmoplegia retinopathy}}</ref><ref>{{cite journal |author=Schrander-Stumpel C, Höweler C, Reekers A, De Smet N, Hall J, Fryns J |title=Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis |journal=J. Med. Genet. |volume=30 |issue=1 |pages=78-80 |year=1993 |pmid=8423615}}</ref>
| |
| *Arthrogryposis renal dysfunction cholestasis syndrome, also known as ARC Syndrome.<ref>{{cite journal |author=Di Rocco M, Callea F, Pollice B, Faraci M, Campiani F, Borrone C |title=Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families |journal=Eur. J. Pediatr. |volume=154 |issue=10 |pages=835-9 |year=1995 |pmid=8529684}}</ref><ref>{{RareDiseases|794|Arthrogryposis renal dysfunction cholestasis syndrome}}</ref>
| |
|
| |
|
| ==Signs and symptoms==
| |
| There is a whole plethora of signs and symptoms for this group of diseases.<ref name=NLM /> Some of the more common signs and symptoms are associated with the 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 /> Complications may include [[scoliosis]], [[lung hypoplasia]] leading to respiratory problems, [[growth retardation]], [[midfacial hemangioma]], facial and jaw deformities, respiratory problems, and abdominal hernias. Cognition and speech are usually normal.<ref name=DPO />
| |
|
| |
|
| ==Causes==
| |
| The cause as such, is unknown though there have been several suggestions and factors suggested to play a role in AMC. This includes [[hyperthermia]] of the fetus, prenatal virus, fetal vascular compromise, septum of the uterus, decreased amniotic fluid, muscle and connective tissue developmental abnormalities. <ref name=DPO /><ref name=Alfonso /> In general, the causes can be classified into extrinsic and intrinsic factors.
| |
|
| |
|
| ===Extrinsic=== | | == [[Arthrogryposis epidemiology and demographics|Epidemiology and Demographics]] == |
| * There is insufficient room in the [[uterus]] for normal movement. For example, fetal crowding; the mother may lack a normal amount of [[amniotic fluid]] or have an abnormally shaped uterus.<ref name=MED1 /><ref name=MED2 />
| |
|
| |
|
| ===Intrinsic=== | | == [[Arthrogryposis natural history, complications and prognosis|Natural History, Complications and Prognosis]] == |
| * Musculoskeletal/Neuromuscular - Muscles do not develop properly ([[atrophy]]). In most cases, the specific cause for muscular atrophy cannot be identified. Suspected causes include muscle diseases (for example, [[congenital]] muscular dystrophies), [[maternal]] [[fever]] during [[pregnancy]], and [[virus]]es, which may damage [[Cell (biology)|cell]]s that transmit [[nerve impulse]]s to the muscles.
| | == Diagnosis == |
| * Neurological - [[Central nervous system]] and [[spinal cord]] are [[malformation|malformed]]. In these cases, a wide range of other conditions usually accompanies arthrogryposis. <ref name=Alfonso />
| |
| * Connective Tissue - Tendons, bones, joints or joint linings may develop abnormally. For example, tendons may not be connected to the proper place in a joint.<ref name=MED1 /><ref name=MED2 />
| |
|
| |
|
| Research has shown that anything that prevents normal joint movement before birth can result in joint contractures. The joint itself may be normal. However, when a joint is not moved for a period of time, extra [[connective tissue]] tends to grow around it, fixing it in position. Lack of joint movement also means that [[tendon]]s connecting to the joint are not stretched to their normal length; short tendons, in turn, make normal joint movement difficult. (This same kind of problem can develop after birth in joints that are immobilized for long periods of time in casts.)
| | [[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]] |
|
| |
|
| The principal cause of AMC is believed to be decreased fetal movements (akinesia) caused by maternal or fetal abnormalities. It is associated with neurogenic and myopathic disorders. It is believed that the neuropathic form of AMC involves a deterioration in the anterior horn cell leading to muscle weakness and fibrosis. <ref>Berkow R ed. The Merck Manual of Diagnosis and Therapy. 16th ed. . Rathway, NJ: Merck Research Laboratories;1992:2075</ref>
| | == Treatment == |
|
| |
| In most cases, arthrogryposis is not a [[genetics|genetic]] condition and does not occur more than once in a family. In about 30% of the cases, a genetic cause can be identified. The risk of recurrence for these cases varies with the type of genetic disorder.<ref name=NLM />There is a rare [[autosomal recessive]] form of the disease known to exist.
| |
|
| |
|
| ==Diagnosis==
| | [[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]] |
| To date, no prenatal diagnostic tools are available to test for the condition. Diagnosis is only used to rule out other causes. This is done by undertaking muscle [[biopsies]], [[blood test]]s and general clinical findings rule out other disorders and provides evidence for AMC.<ref name=DPO />
| |
|
| |
|
| ==Treatment== | | ==Case Studies== |
| 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 />
| | :[[Arthrogyropsis case study one|Case #1]] |
|
| |
|
| ==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>
| |
|
| |
| ==Epidemiology==
| |
| 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.
| |
|
| |
| ==References==
| |
| {{reflist}}
| |
|
| |
| ==External links==
| |
| *[http://www.protraineronline.com/past/Oct06/STM.cfm First-degree Black Belt & Fitness Trainer with disorder] by Brian Stone
| |
| *[http://www.devilducky.com/media/40715/ Dancer with the disorder]
| |
| *[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]
| |
| *[http://www.projectscissorgait.2ya.com Living life to the fullest with arthrogryposis]
| |
|
| |
|
| {{Congenital malformations and deformations of musculoskeletal system}} | | {{Congenital malformations and deformations of musculoskeletal system}} |
| [[Category:Muscular disorders]] | | [[Category:Muscular disorders]] |
| [[Category:Congenital disorders]] | | [[Category:Congenital disorders]] |
| | [[Category:Disease]] |
|
| |
|
| [[de:Arthrogryposis multiplex congenita]]
| |
| [[he:ארתרוגריפוזיס]]
| |
| [[tr:Artrogripozis]]
| |
|
| |
|
| {{jb1}}
| |
| {{WikiDoc Help Menu}} | | {{WikiDoc Help Menu}} |
| {{WS}} | | {{WS}} |