Table of ContentsView AllTable of ContentsIs Arthrogryposis Rare?CausesSymptomsDiagnosisTreatmentPrognosis
Table of ContentsView All
View All
Table of Contents
Is Arthrogryposis Rare?
Causes
Symptoms
Diagnosis
Treatment
Prognosis
A contracture occurs when a joint becomes stiff and fixed in a bent or straight position, limiting movement of that joint. Why AMC happens is not fully understood, although some arthrogryposis causes are known. Others, including genetic influences, remain under study.
This article explains arthrogryposis, some potential causes for the disorder, and its symptoms. It will help you to understand how AMC is diagnosed and treated, as well as what to know duringpregnancy.
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Arthrogryposis develops before birth (it is acongenital defect) and in the U.S., it occurs about once per every 3,000 to 5,000 live births, affecting both males and females of all ethnic backgrounds.
More than one body part has to be affected for the disorder to be referred to as arthrogryposis multiplex congenita (AMC).Clubfoot, for example, is a congenital contracture affecting only the foot. It is an isolated congenital contracture and not arthrogryposis.
There are more than 150 types of AMC, with amyoplasia being the most common and accounting for more than 40% of all AMC cases.
Arthrogryposis Causes
Some of the causes of decreased fetal movements are:
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Symptoms of Arthrogryposis
The particular joint contractures found in an infant with arthrogryposis vary from child to child, but there are several common characteristics:
Some infants with arthrogryposis have facial deformities, a curvature of the spine, genital deformities, cardiac and respiratory problems, and skin defects.
Diagnosing Arthrogryposis
Making a diagnosis of arthrogryposis multiplex congenita (AMC) is difficult when a fetus is still developing. There is no prenatal test for the disorder. Some AMC changes may be detected during ultrasound examinations, but the majority of them (about three-fourths) can be seen only after 24 weeks of gestation.
However, people with a history of AMC during previous pregnancies can be monitored more closely. There is a genetic link in some but not most cases.An obstetrician-gynecologist (OB-GYN) may recommendgenetic testingas part of a diagnosis in specific cases.
An AMC diagnosis is confirmed when a newborn has joint contractures in two or more places. Part of the diagnosis will include testing for other conditions that may be the cause, or related to, the development of AMC, including brain, heart, and eye disorders.
Some of these conditions will involve severe and potentially fatal outcomes, includingstillbirth, but many children who receive treatment for AMC will have generally normal life expectancy.
Researchers continue to refine their understanding of AMC and related disorders, as well as advanced ultrasound techniques to assess mobility and muscle and bone development in the fetus.
Arthrogryposis Treatment
Arthrogryposis cannot be cured, but treatment is directed towards specific symptoms. For example, early vigorous physical therapy can help stretch out the contracted joints and develop the weak muscles.
Splints can also help stretch joints, especially at night. Orthopedic surgery may also be able to relieve or correct joint problems.
Ultrasound or computed tomography (CT) scans can identify any central nervous system or other abnormalities. These may require surgery to treat, such as congenital heart defects that may need to be repaired.
Keep in mind that AMC is not a progressive disease. This means it will not get worse over time, and people born with it often experience lives that are full, self-sufficient and successful.
In fact, one long-term study of 65 adults born with AMC found that 38 of them went to college, the same number were married, 34 had children of their own, and only 10 lived lives that were fully dependent on others.
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Arthrogryposis Prognosis
10 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Kowalczyk B, Feluś J.Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies.Arch Med Sci. 2016;12(1):10-24. doi:10.5114/aoms.2016.57578Sucuoglu H, Ornek NI, Caglar C.Arthrogryposis Multiplex Congenita: Multiple Congenital Joint Contractures.Case Rep Med. 2015;2015:379730. doi:10.1155/2015/379730Johns Hopkins Medicine.Arthrogryposis.American College of Obstetricians and Gynecologists.Reducing Risks of Birth Defects.Binkiewicz-glinska A, Sobierajska-rek A, Bakula S, et al.Arthrogryposis in infancy, multidisciplinary approach: case report.BMC Pediatr. 2013;13:184. doi:10.1186/1471-2431-13-184Pollazzon M, Caraffi SG, Faccioli S, Rosato S, Fodstad H, Campos-Xavier B,et al.Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.Genes (Basel). 2021 Dec 23;13(1):29. doi: 10.3390/genes13010029.National Organization for Rare Disorders (NORD).Arthrogryposis Multiplex Congenita.Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E,et al.KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.Am J Hum Genet. 2018 Jan 4;102(1):116-132. doi: 10.1016/j.ajhg.2017.12.002.Tjon JK, Tan-Sindhunata GM, Bugiani M, Witbreuk MM, van der Sluijs JA, Weiss MM,et al.Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort study.Prenat Diagn. 2019 Feb;39(3):219-231. doi:10.1002/pd.5411.Dubousset J, Guillaumat M. Long-term outcome for patients with arthrogryposis multiplex congenita.J Child Orthop. 2015 Dec;9(6):449-58. doi:10.1007/s11832-015-0692-6.
10 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Kowalczyk B, Feluś J.Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies.Arch Med Sci. 2016;12(1):10-24. doi:10.5114/aoms.2016.57578Sucuoglu H, Ornek NI, Caglar C.Arthrogryposis Multiplex Congenita: Multiple Congenital Joint Contractures.Case Rep Med. 2015;2015:379730. doi:10.1155/2015/379730Johns Hopkins Medicine.Arthrogryposis.American College of Obstetricians and Gynecologists.Reducing Risks of Birth Defects.Binkiewicz-glinska A, Sobierajska-rek A, Bakula S, et al.Arthrogryposis in infancy, multidisciplinary approach: case report.BMC Pediatr. 2013;13:184. doi:10.1186/1471-2431-13-184Pollazzon M, Caraffi SG, Faccioli S, Rosato S, Fodstad H, Campos-Xavier B,et al.Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.Genes (Basel). 2021 Dec 23;13(1):29. doi: 10.3390/genes13010029.National Organization for Rare Disorders (NORD).Arthrogryposis Multiplex Congenita.Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E,et al.KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.Am J Hum Genet. 2018 Jan 4;102(1):116-132. doi: 10.1016/j.ajhg.2017.12.002.Tjon JK, Tan-Sindhunata GM, Bugiani M, Witbreuk MM, van der Sluijs JA, Weiss MM,et al.Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort study.Prenat Diagn. 2019 Feb;39(3):219-231. doi:10.1002/pd.5411.Dubousset J, Guillaumat M. Long-term outcome for patients with arthrogryposis multiplex congenita.J Child Orthop. 2015 Dec;9(6):449-58. doi:10.1007/s11832-015-0692-6.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Kowalczyk B, Feluś J.Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies.Arch Med Sci. 2016;12(1):10-24. doi:10.5114/aoms.2016.57578Sucuoglu H, Ornek NI, Caglar C.Arthrogryposis Multiplex Congenita: Multiple Congenital Joint Contractures.Case Rep Med. 2015;2015:379730. doi:10.1155/2015/379730Johns Hopkins Medicine.Arthrogryposis.American College of Obstetricians and Gynecologists.Reducing Risks of Birth Defects.Binkiewicz-glinska A, Sobierajska-rek A, Bakula S, et al.Arthrogryposis in infancy, multidisciplinary approach: case report.BMC Pediatr. 2013;13:184. doi:10.1186/1471-2431-13-184Pollazzon M, Caraffi SG, Faccioli S, Rosato S, Fodstad H, Campos-Xavier B,et al.Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.Genes (Basel). 2021 Dec 23;13(1):29. doi: 10.3390/genes13010029.National Organization for Rare Disorders (NORD).Arthrogryposis Multiplex Congenita.Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E,et al.KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.Am J Hum Genet. 2018 Jan 4;102(1):116-132. doi: 10.1016/j.ajhg.2017.12.002.Tjon JK, Tan-Sindhunata GM, Bugiani M, Witbreuk MM, van der Sluijs JA, Weiss MM,et al.Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort study.Prenat Diagn. 2019 Feb;39(3):219-231. doi:10.1002/pd.5411.Dubousset J, Guillaumat M. Long-term outcome for patients with arthrogryposis multiplex congenita.J Child Orthop. 2015 Dec;9(6):449-58. doi:10.1007/s11832-015-0692-6.
Kowalczyk B, Feluś J.Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies.Arch Med Sci. 2016;12(1):10-24. doi:10.5114/aoms.2016.57578
Sucuoglu H, Ornek NI, Caglar C.Arthrogryposis Multiplex Congenita: Multiple Congenital Joint Contractures.Case Rep Med. 2015;2015:379730. doi:10.1155/2015/379730
Johns Hopkins Medicine.Arthrogryposis.
American College of Obstetricians and Gynecologists.Reducing Risks of Birth Defects.
Binkiewicz-glinska A, Sobierajska-rek A, Bakula S, et al.Arthrogryposis in infancy, multidisciplinary approach: case report.BMC Pediatr. 2013;13:184. doi:10.1186/1471-2431-13-184
Pollazzon M, Caraffi SG, Faccioli S, Rosato S, Fodstad H, Campos-Xavier B,et al.Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.Genes (Basel). 2021 Dec 23;13(1):29. doi: 10.3390/genes13010029.
National Organization for Rare Disorders (NORD).Arthrogryposis Multiplex Congenita.
Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E,et al.KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.Am J Hum Genet. 2018 Jan 4;102(1):116-132. doi: 10.1016/j.ajhg.2017.12.002.
Tjon JK, Tan-Sindhunata GM, Bugiani M, Witbreuk MM, van der Sluijs JA, Weiss MM,et al.Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort study.Prenat Diagn. 2019 Feb;39(3):219-231. doi:10.1002/pd.5411.
Dubousset J, Guillaumat M. Long-term outcome for patients with arthrogryposis multiplex congenita.J Child Orthop. 2015 Dec;9(6):449-58. doi:10.1007/s11832-015-0692-6.
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