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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

What would cause 2 children of the same family to have this disease, and how common is it?

Our Answer

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What causes arthrogryposis multiplex congenita?

The exact cause of arthrogryposis multiplex congenita (AMC) is not fully understood.[1] 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.[4][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.[4][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

What might cause two children in the same family to have arthrogryposis multiplex congenita?

There are numerous possible causes of arthrogryposis multiplex congenita (AMC), and several of these causes might cause more than one child in a family to be affected. Known genetic causes typically carry specific recurrence risks. For example, if AMC is associated with an autosomal recessive cause, there is a 25% (1 in 4) risk for AMC in each child conceived by the same parents. For sporadic cases (in which there is no family history and the cause is not thought to be genetic), the risk of recurrence is thought to be about 1%.[5] Potential causes such as a uterine structural abnormalities, which may cause insufficient room for fetal movement, may also contribute to the condition in a subsequent child.
Last updated: 6/12/2012

How common is arthrogryposis multiplex congenita (AMC)?

AMC affects approximately 1 in 3,000 individuals in the United States. The condition has been reported in individuals of Asian, African and European descent.[2] It is more common in isolated populations such as Finland and the Bedouin community in Israel. The number of men and women affected is approximately equal.[6]
Last updated: 6/12/2012

References