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Diseases

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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Inheritance


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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. [1] 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

References
  1. Arthrogryposis Multiplex Congenita. NORD. June 21, 2010; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/211/viewAbstract. Accessed 6/12/2012.
  2. 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.