Arthrogryposis multiplex congenita neurogenic type
Other Names for this Disease
- AMC, neurogenic type
- Neurogenic type of AMC
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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. 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). 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
- Harold Chen. Arthrogryposis. Medscape Reference. August 11, 2011; http://emedicine.medscape.com/article/941917-overview. Accessed 6/12/2012.
- Arthrogryposis Multiplex Congenita. NORD. February 2013; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/211/viewAbstract.
- 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.
- 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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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.