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Diseases

Genetic and Rare Diseases Information Center (GARD)

Arthrogryposis multiplex congenita neurogenic type


Other Names for this Disease
  • AMC, neurogenic type
  • AMCN
  • Neurogenic type of AMC
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Overview

Arthrogryposis multiplex congenita neurogenic type (AMCN) refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. A contracture occurs when a joint becomes permanently fixed in a bent or straightened position, which can impact the function and range of motion of the joint and lead to muscle atrophy.[1][2] Signs and symptoms of AMCN vary. AMCN can affect upper and lower joints, including the wrists, elbows, fingers, knees, ankles, and hip.  In AMCN, arthrogryposis occurs as a result of the abnormal development of cells in the spinal cord (anterior horn cells) or brainstem (motor nuclei).[3] AMCN often occurs sporadically (in a person with no family history of the condition), however families with multiple affected  members have also been reported. In most cases, the underlying genetic cause remains unknown.
Last updated: 5/7/2015

References

  1. Harold Chen. Arthrogryposis. Medscape Reference. August 11, 2011; http://emedicine.medscape.com/article/941917-overview. Accessed 6/12/2012.
  2. Arthrogryposis Multiplex Congenita. NORD. February 2013; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/211/viewAbstract.
  3. Ambegaonkar G, Manzur AY, Robb SA, Kinali M, Muntoni F. The multiple phenotypes of arthrogryposis multiplex congenita with reference to the neurogenic variant. Eur J Paediatr Neurol. 2011 Jul; 15(4):316-9. Accessed 5/7/2015.
  4. Fedrizzi E, Botteon G, Inverno M, Ciceri E, D'Incerti L, Dworzak F. Neurogenic arthrogryposis multiplex congenita: clinical and MRI findings. Pediatr Neurol. 1993 Sep-Oct; 9(5):343-8. Accessed 5/7/2015.
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In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Arthrogryposis multiplex congenita neurogenic type. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • AMC, neurogenic type
  • AMCN
  • Neurogenic type of AMC
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.