Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Arthrogryposis multiplex congenita


Other Names for this Disease
  • AMC
  • Amyoplasia congenita
  • Arthrogryposis
  • Arthromyodysplasia congenita
  • Congenital amyoplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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 causes arthrogryposis multiplex congenita?

The exact cause of arthrogryposis multiplex congenita (AMC) is not fully understood. AMC is thought to be related to decreased fetal movement during development, which can occur for a variety of reasons.[1][2] When a joint is not moved for a period of time, extra connective tissue may grow around it, fixing it in place. Lack of joint movement also means that tendons connected to the joint are not stretched to their normal length, which can make normal joint movement difficult.[3]

In general, there are four causes for decreased fetal movement before birth:[3]

  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 the cells that transmit nerve impulses to the muscles.
  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.
  3. Malformations of the central nervous system (the brain and/or spinal cord). In these cases, arthrogryposis is usually accompanied by a wide range of other symptoms.
  4. Tendons, bones, joints or joint linings may develop abnormally. For example, tendons may not be connected to the proper place in a joint.

AMC can be a component of numerous condition caused by environmental factors, single gene changes (autosomal dominant, autosomal recessive, X-linked), chromosomal abnormalities and various syndromes.[1]
Last updated: 1/13/2015

Is arthrogryposis multiplex congenita inherited?

Arthrogryposis multiplex congenita (AMC) is not inherited in most cases; however, a genetic cause can be identified in about 30% of affected people. It can be a component of many different genetic conditions, including those caused by a single gene change or a chromosomal abnormality, such as trisomy 18. Genetic conditions sometimes associated with AMC include some connective tissue disorders; muscle disorders such as muscular dystrophies or congenital myopathies; and certain mitochondrial disorders.[2] Depending on the underlying genetic cause, it may be inherited in an autosomal recessive, autosomal dominant or X-linked manner. Some cases are thought to have multifactorial inheritance, which means that both genetic and environmental factors may play a role in causing the condition.[1]
Last updated: 1/13/2015

Is genetic testing available for arthrogryposis?

Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 1/13/2015

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: 11/27/2014

References
Other Names for this Disease
  • AMC
  • Amyoplasia congenita
  • Arthrogryposis
  • Arthromyodysplasia congenita
  • Congenital amyoplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.