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Genetic and Rare Diseases Information Center (GARD)

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Arthrogryposis multiplex congenita


Other Names for this Disease
  • Arthrogryposis
  • Congenital arthromyodysplasia
  • Congenital multiple arthrogryposis
  • Fibrous ankylosis of multiple joints
  • Guerin-Stern syndrome
More Names
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Your Question

Two members of my immediate family died at birth as a result of arthrogryposis. Is this condition inherited? Can I have genetic testing done to determine my risk to have children with this condition?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is arthrogryposis multiplex congenita?

Arthrogryposis multiplex congenita (AMC) is a group of nonprogressive conditions that cause multiple joint contractures (stiff joints) and abnormal muscle development.[1] The signs and symptoms of AMC are present at birth but can vary greatly in severity. The exact cause of AMC is not fully understood, but it is thought to be associated with decreased movement or limited space in utero, connective tissue disorders, or maternal illness. Sometimes AMC occurs as part of genetic syndrome. Treatment focuses on the specific symptoms experienced by each individual and may include physical therapy, removable splints, exercise, or surgery.[2]
Last updated: 12/18/2012

What causes arthrogryposis multiplex congenita?

The exact cause of arthrogryposis multiplex congenita (AMC) is not fully understood.[3] The most common cause of AMC is believed to be decreased fetal movement, which in itself can have multiple causes.[2] When a joint is not moved for a period of time, extra connective tissue often grows 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.[4]

In general, there are four causes for limitation of joint movement before birth:

  1. Abnormal development of muscles. In most cases, the specific cause for this cannot be identified. Suspected causes include muscle diseases, maternal fever during pregnancy, and viruses which may damage cells which transmit nerve impulses to the muscles.[1][4]
  2. Insufficient room in the uterus for normal movement. For example, multiple fetuses may be present, the mother may lack normal amounts of amniotic fluid or there may be uterine structural abnormalities.[1][4]
  3. Malformations of the central nervous system and/or spinal cord. In these cases, arthrogryposis is usually accompanied by a wide range of other symptoms.[4]
  4. Tendons, bones, joints or joint linings may develop abnormally. For example, tendons may not be connected to the proper place in a joint.[4]

AMC may also occur as part of certain genetic disorders that can be inherited as autosomal recessiveautosomal dominant or X-linked traits. It may also occur as part of chromosome disorders (for example, trisomy 18).[2]

Last updated: 6/12/2012

Is arthrogryposis multiplex congenita inherited?

Arthrogryposis multiplex congenita (AMC) is not inherited in most cases, but it is thought to have a genetic cause in about 30% of affected individuals.[6Close66] Genetic disorders sometimes associated with AMC include some connective tissue disorders; muscle disorders such as muscular dystrophies or congenital myopathies; and certain mitochondrial disorders. Depending on the genetic condition, it may be inherited in an autosomal recessiveautosomal dominant or X-linked manner. AMC may also be associated with certain chromosome disorders, such as trisomy 18. [2] Some cases are thought to have multifactorial inheritance, which means that both genetic and environmental factors may play a role in causing the condition.
Last updated: 6/12/2012

Is genetic testing available for arthrogryposis?

GeneTests lists laboratories offering clinical genetic testing for arthrogryposis. To find these laboratories, select the "GeneReviews" icon at the top of the page at the following link. Use "arthrogryposis multiplex congenita" as your disease search term. On the results page, click on the "Testing" icon after the condition of your choice. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
http://www.geneclinics.org/
Last updated: 6/12/2012

How can I learn about medical research into arthrogryposis multiplex congenita?

GeneTests lists laboratories that are conducting research testing for several types of arthrogryposis multiplex congenita. To find these laboratories, select the "GeneReviews" icon at the top of the page at the following link. Use "arthrogryposis multiplex congenita" as your disease search term. On the results page, click on the "Research" icon after the condition of your choice. The research being conducted at these laboratories may or may not be relevant to your situation. Check the listing of each laboratory to see if direct patient contact is accepted. Research laboratories may prefer that interested patients work through a healthcare provider or genetics clinic.
http://www.geneclinics.org/
Last updated: 2/2/2009

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 6/22/2012

References