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

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Arthrogryposis multiplex congenita


Other Names for this Disease
  • Arthrogryposis
  • Congenital arthromyodysplasia
  • Congenital multiple arthrogryposis
  • Fibrous ankylosis of multiple joints
  • Guerin-Stern syndrome
More Names
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview



What is arthrogryposis multiplex congenita?

What are the signs and symptoms of arthrogryposis multiplex congenita?

What causes arthrogryposis multiplex congenita?

Is arthrogryposis multiplex congenita inherited?

Is genetic testing available for arthrogryposis?


How might arthrogryposis multiplex congenita be treated?


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 are the signs and symptoms of arthrogryposis multiplex congenita?

The signs and symptoms associated with arthrogryposis multiplex congenita (AMC) can vary greatly in range and severity among affected individuals.[2] The condition is always present at birth (congenital) but does not get worse over time (it is not progressive). In some cases, few joints maybe affected and the range of motion may be nearly normal. In most cases the hands, wrists, elbows, shoulders, hips, feet, and knees are affected. In the most severe cases, nearly every joint in the body may be involved, including those of the jaw and back. The joint contractures are often accompanied by muscle weakness, which may further limit movement.[3]

Last updated: 6/12/2012

What causes arthrogryposis multiplex congenita?

The exact cause of arthrogryposis multiplex congenita (AMC) is not fully understood.[4] 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.[3]

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][3]
  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][3]
  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.[3]
  4. Tendons, bones, joints or joint linings may develop abnormally. For example, tendons may not be connected to the proper place in a joint.[3]

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 might arthrogryposis multiplex congenita be treated?

Early in life, patients with joint abnormalities are typically treated with stretching exercises and splinting to improve motion. Splinting and occupational/hand therapy are the treatment of choice for patients with mild to moderate deformity. [4] Emphasis is most often placed on achieving as much joint mobility as possible. [3]

For most types of arthrogryposis, physical and occupational therapy has proven very beneficial in improving muscle strength and function and increasing the range of motion of affected joints. [3]

Some patients, however, have persistent functional difficulties despite a rigorous physical therapy regimen. In certain situations, surgery is recommended to improve limb position and function. These procedures may include muscle releases, tendon transfers, or bony fusions. [4]

While improvements can be made, most patients will have persistent muscular and/or joint limitations due to the underlying condition. [4]

Last updated: 6/12/2012

References
  1. Chen H. Arthrogryposis. eMedicine. August 8, 2007; http://emedicine.medscape.com/article/941917-overview. Accessed 2/2/2009.
  2. Arthrogryposis Multiplex Congenita. NORD. June 21, 2010; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/211/viewAbstract. Accessed 6/12/2012.
  3. Arthrogryposis: What it is and how it is treated. A National Support Group for Arthrogryposis Multiplex Congenita (AVENUES). http://www.avenuesforamc.com/publications/pamphlet.htm. Accessed 10/15/2013.
  4. My Child Has...Arthrogryposis. Children's Hospital Boston. 2007; http://www.childrenshospital.org/az/Site594/mainpageS594P0.html. Accessed 2/2/2009.