Arthrogryposis

Arthrogryposis
Classification and external resources
ICD-10	Q74.3
ICD-9	728.3, 754.89
OMIM	108110 108120 208100 301830 601701 208200 108200 301830 208155 601680 108145 208085
DiseasesDB	31688 31816
eMedicine	ped/142
MeSH	D001176

Arthrogryposis, also known as Arthrogryposis Multiplex Congenita, is a rare congenital disorder that is characterized by multiple joint contractures and can include muscle weakness and fibrosis. It is a non-progressive disease. The disease derives its name from Greek, literally meaning 'curved or hooked joints'.^{[1][2][3][4][5][6][7][8][7][9][10]}

There are many known subgroups of AMC, with differing signs, symptoms, causes etc.^[3] In some cases, few joints may be affected and may have a nearly full range of motion. 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.^[1][5]

Classification

Some of the different types of AMC include:

• Arthrogryposis multiplex due to muscular dystrophy.^[11][12]
• Arthrogryposis ectodermal dysplasia other anomalies, also known as Cote Adamopoulos Pantelakis syndrome, Trichooculodermovertebral syndrome, TODV syndrome and Alves syndrome.^[13][14]
• Arthrogryposis epileptic seizures migrational brain disorder.^[15]
• Arthrogryposis IUGR thoracic dystrophy,also known as Van Bervliet syndrome.^[16][17]
• Arthrogryposis like disorder, also known as Kuskokwim disease.^[18]
• Arthrogryposis-like hand anomaly and sensorineural deafness.^[19][20]
• Arthrogryposis multiplex congenita CNS calcification.^[21]
• Arthrogryposis multiplex congenita distal (AMCD),^[22] with a large number of synonyms such as Arthrogryposis multiplex congenita, distal, x-linked (AMCX1)^[23][24] and Arthrogryposis spinal muscular atrophy^[25][26][27]
• Gordon Syndrome, also known as Distal Arthrogryposis, Type 2A.^[28]
• Arthrogryposis multiplex congenita, distal type 2B, also known as Freeman-Sheldon syndrome variant.^[29]
• Arthrogryposis multiplex congenita neurogenic type (AMCN).^[30] This particular type of AMC has been linked to the AMCN gene on locus 5q35.^[31][32] Arthrogryposis multiplex congenita pulmonary hypoplasia, also with a large number of synonyms.^[33][34]
• Arthrogryposis multiplex congenita whistling face, also known as Illum syndrome.^{[35][36][37][38]}
• Arthrogryposis multiplex congenita, distal type 1 (AMCD1).^[39]
• Arthrogryposis ophthalmoplegia retinopathy, also known as Oculomelic amyoplasia.^[40][41][42]
• Arthrogryposis renal dysfunction cholestasis syndrome, also known as ARC Syndrome.^[43][44]

Signs and symptoms

There are numerous symptoms for this group of conditions.^[4] Some of the more common signs and symptoms are associated with the shoulder (internal rotation), elbow (extension and pronation), wrist (volar and ulnar), hand (fingers in fixed flexion and thumb-in-palm), hip (flexed, abducted and externally rotated, often dislocated), knee (flexion) and foot (clubfoot).^[8] Complications may include scoliosis, pulmonary hypoplasia, respiratory problems, growth retardation, midfacial hemangioma, facial and jaw variations, and abdominal hernias. Cognition and language are usually normal.^[5]

Causes

The cause is unknown,^[7] although several mechanisms have been suggested. This includes hyperthermia of the fetus, prenatal virus, fetal vascular compromise, septum of the uterus, decreased amniotic fluid, muscle and connective tissue developmental abnormalities.^[5][6] In general, the causes can be classified into extrinsic and intrinsic factors.

Extrinsic

• 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.^[3][9]

Intrinsic

• muscles.
• Neurological - Central nervous system and spinal cord are malformed. In these cases, a wide range of other conditions usually accompanies arthrogryposis.^[6]
• 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.^[3][9]

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 tendons 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.)

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.^[45]

In most cases, arthrogryposis is not a 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.^[4] There is a rare autosomal recessive form of the disease known to exist^[7]

Diagnosis

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 tests and general clinical findings rule out other disorders and provides evidence for AMC.^[5]

Treatment

While there is no reversal of this condition, individual quality of life can be greatly improved. As each person will respond differently, and will have different needs, a combination of therapies is beneficial. Physical therapy including stretching ,strengthening, and mobility training are often provided to improve flexion and range of motion to increase mobility. Occupational therapy (may also include casting, splinting of affected joints) can include training in ADL and fine motor skills as well as addressing psychosocial and emotional implications of living with a disability. Since there is a variety of mobility impairments, individually tailored orthopaedic correction is often beneficial. Orthopedic surgery, which include osteotomy or external Ilizarov fixator, may be elected to correct severely affected joints and limbs and symptoms such as clubfoot, hernia repair and correction of unilateral hip dislocation, in cases where these surgeries improve quality of life. However, in most cases, the contractures would recur despite surgery. A surgery called Tendon Release is usually done to stretch out the tendon the makes most patients walk on there toes.

Prognosis

Individuals with AMC are aided by vigorous therapy and in some cases surgical intervention. This varies to some degree, depending on the severity of mobility reduction.^[5] AMC is not a progressive disorder. Typically these individuals have normal cognition and speech and therefore the potential for productive, rewarding, and independent lives.

Epidemiology

AMC is relatively rare occurring in 1 out of every 3,000 live births.^[5][8] Amyoplasia, characterized by fatty and fibrous tissue replacement of the limb muscles, is the most common form, at 43% of reported cases.^[46] The majority of individuals thrive, with a minority strongly affected by respiratory muscle involvement.

Affected people

• Celestine Tate Harrington, a quadriplegic street musician who performed at the Atlantic City Boardwalk and author of the 1996 book, "Some Crawl and Never Walk."
• Asta Philpot, an American-born man living in England, who was the protagonist of a BBC documentary about prostitution as a means of offering the chance of sexual experiences to people with disabilities.
• Lee Pearson, a 9-time gold medal winner at the Paralympic games in dressage.
• Ryan Lingholm, a bowler that was featured on CNN and Good Morning America after bowling a perfect game in October of 2007.
• Sunny Taylor, an American painter and activist.
• Josh Twelves, a YouTube comedian actor from Utah.
• Prudence Mabhena, lead singer for the band "Liyana" and subject of the short documentary Music by Prudence, which won an Academy Award for Best Documentary (Short Subject) in 2009.^[47]
• Charles R. Martin Jr., M.D., an American man (died February 14, 2011) who lived in Phoenix who was born with arthrogryposis but through perseverance and drive became the only Medical Doctor in the history of the American Medical Association with this condition, who cared for and performed minor surgical procedures on patients.
• John Nellie Nelson, A Pacific Lutheran University football coach and ambassador to the PLU community.
• Luca "LazyLegz" Patuelli, A Canadian B-boy who has appeared on The Today Show, So You Think You Can Dance Canada, and America's Got Talent, and performed at the 2010 Winter Paralympics opening ceremony in Vancouver.
• Randy Fitzgerald, A professional gamer who goes by the gamertag "N0M4D" plays only with his lips and chin.
• A. Mustafa Siddiqui, an Indian English Poet, Novelist, and Editor.
• Dean Olivas, an American powerhockey player for the Michigan Mustangs. He's won many awards as a goaltender despite being affected by Arthrogryposis.
• Ben Kelly, Has Arthrogryposis and resides in the U.S. He is a nationally awarded qualitative writer, public speaker, and disability advocate.
• Jason Lazarus, an American photographer
• Mike Begum, a gamer who goes by the name of Broly or Legs who plays Street Fighter and Smash Brothers series of fighting games competitively.
• Eric Swymer, American artist currently based in Los Angeles, formerly of Atlanta Georgia.
• Jennifer Kumiyama, a singer/actress cast in Disney's "Aladdin; A Musical Spectacular" at Disney California Adventure Theme Park. Will appear in "The Surrogate" (2013) as "Carmen". Appeared in Warner Bros. "PopStars2" in 2000.
• John Henry III owns a successful business in Fort Wayne, IN (JH Specialty, Inc) He was born with Arthrogryposis which primarily affected his knees. He was treated at the Shrine Hospital for Children in Chicago from birth until the age of 18.
• Melissa Sanchez graphic designer and illustrator living in Los Angeles, CA.
• Joshua Appleberry, a teacher and coach for the YMCA. Opperated on by the renowned doctors Eugene Bleck and Lawrence Rinsky of Stanford University. Resides in Northern California and is an avid hiker.

References

1. ^ ^{a b} ARTHROGRYPOSIS - Page Has Moved
2. ^ Arthrogryposis
3. ^ ^{a b c d} AMC (arthrogryposis multiplex congenita) definition - Medical Dictionary definitions of popular medical terms easily defined on MedTerms
4. ^ ^{a b c} Congenital Syndromes Database Closed
5. ^ ^{a b c d e f g} http://www.dpo.uab.edu/~birmie/amc.htm
6. ^ ^{a b c} Alfonso, I., Papazian, O., Paez J.O., Grossman, J.A.I (2000). Arthrogryposis Multiplex Congenita. International Pediatrics, 15, 4, 197-204.
7. ^ ^{a b c d} NORD - National Organization for Rare Disorders, Inc
8. ^ ^{a b c} Orthoseek | Orthopedic Topics | Arthrogryoposis
9. ^ ^{a b c} Arthrogryposis definition - Medical Dictionary definitions of popular medical terms easily defined on MedTerms
10. ^ Donohue M, Bleakney DA. Arthrogryposis Multiplex Congenita. In: Campbell SK ed. Physical Therapy for Children. Philadelphia, PA: WB Saunders; 1995:261-277.
11. ^ "Arthrogryposis multiplex due to congenital muscular dystrophy". Pediatrics 22 (5): 875. 1958. http://pediatrics.aappublications.org/cgi/content/abstract/22/5/875. 
12. ^ Banker B, Victor M, Adams R (1957). "Arthrogryposis multiplex due to congenital muscular dystrophy". Brain 80 (3): 319–34. doi:10.1093/brain/80.3.319. PMID 13471804. 
13. ^ Arthrogryposis and ectodermal dysplasia at NIH's Office of Rare Diseases
14. ^ Stoll C, Alembik Y, Finck S, Janser B (1992). "Arthrogryposis, ectodermal dysplasia and other anomalies in two sisters". Genet. Couns. 3 (1): 35–9. PMID 1590979. 
15. ^ "ORPHA1139 Arthrogryposis - epileptic seizures - migrational brain disorder". Orphanet. http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1411&Disease_Disease_Search_diseaseGroup=1139. ORPHANET - About rare diseases - About orphan drugs
16. ^ ORPHANET - About rare diseases - About orphan drugs
17. ^ Arthrogryposis IUGR thoracic dystrophy at NIH's Office of Rare Diseases
18. ^ CTD: Disease Not Found
19. ^ CTD: Disease Not Found
20. ^ Arthrogryposis-like hand anomaly and sensorineural deafness at NIH's Office of Rare Diseases
21. ^ Arthrogryposis multiplex congenita CNS calcification at NIH's Office of Rare Diseases
22. ^ Arthrogryposis Multiplex Congenita, Distal - What does AMCD stand for? Acronyms and abbreviations by the Free Online Dictionary
23. ^ CTD: Disease Not Found
24. ^ Arthrogryposis multiplex congenita, distal, x-linked - What does AMCX1 stand for? Acronyms and abbreviations by the Free Online Dictionary
25. ^ Online 'Mendelian Inheritance in Man' (OMIM) 301830
26. ^ ORPHANET - About rare diseases - About orphan drugs
27. ^ Cat.Inist
28. ^ Gordon Syndrome
29. ^ http://www.medinet.lk/journals/CMJ/2001/december/arthrogryposis.htm
30. ^ Arthrogryposis Multiplex Congenita, Neurogenic Type - What does AMCN stand for? Acronyms and abbreviations by the Free Online Dictionary
31. ^ CTD: Disease Not Found
32. ^ CTD: Disease Not Found
33. ^ ORPHANET - About rare diseases - About orphan drugs
34. ^ Leichtman L, Say B, Barber N (1980). "Primary pulmonary hypoplasia and arthrogryposis multiplex congenita". J. Pediatr. 96 (5): 950–1. doi:10.1016/S0022-3476(80)80591-9. PMID 7365612. 
35. ^ Illum N, Reske-Nielsen E, Skovby F, Askjaer S, Bernsen A (1988). "Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system". Neuropediatrics 19 (4): 186–92. doi:10.1055/s-2008-1052443. PMID 3205375. 
36. ^ CTD: Disease Not Found
37. ^ ORPHANET - About rare diseases - About orphan drugs
38. ^ Arthrogryposis multiplex congenita whistling face at NIH's Office of Rare Diseases
39. ^ Arthrogryposis multiplex congenita at NIH's Office of Rare Diseases
40. ^ ORPHANET - About rare diseases - About orphan drugs
41. ^ Arthrogryposis ophthalmoplegia retinopathy at NIH's Office of Rare Diseases
42. ^ Schrander-Stumpel C, Höweler C, Reekers A, De Smet N, Hall J, Fryns J (1993). "Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis". J. Med. Genet. 30 (1): 78–80. doi:10.1136/jmg.30.1.78. PMC 1016242. PMID 8423615. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1016242. 
43. ^ Di Rocco M, Callea F, Pollice B, Faraci M, Campiani F, Borrone C (1995). "Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families". Eur. J. Pediatr. 154 (10): 835–9. doi:10.1007/BF01959793. PMID 8529684. 
44. ^ Arthrogryposis renal dysfunction cholestasis syndrome at NIH's Office of Rare Diseases
45. ^ Berkow R ed. The Merck Manual of Diagnosis and Therapy. 16th ed. . Rathway, NJ: Merck Research Laboratories;1992:2075
46. ^ Hall JG (1997). "Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects". J Pediatr Orthop B 6 (3): 159–66. doi:10.1097/01202412-199707000-00002. PMID 9260643. 
47. ^ American Journal of Nursing

External links

• AMC Support (United States)
• Avenues (United States)
• The Michael Fund (United States)
• Women for AMC Awareness
• The Arthrogryposis Group (United Kingdom)
• Enabled - A True Story About A Lady with Arthrogryposis (United Kingdom)