National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Arthrogryposis multiplex congenita neurogenic type


Other Names:
AMCN; AMC, neurogenic type; Neurogenic type of AMC
Categories:
This disease is grouped under:
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.[3][4]
Last updated: 5/7/2015

Arthrogryposis multiplex congenita neurogenic type (AMCN) causes 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.[5][2] The contractures may occur alone or along with brain malformations.[4] Learning can be normal to severely impaired depending on the presence of a brain malformation. The following additional symptoms have been reported in individual cases:[3][4]

Scoliosis
Hip dysplasia
Hip dislocation
Differences in facial appearance (e.g., small lower jaw, wide spaced eyes, drooping eyelids, down turned mouth)
Differences in head shape (e.g., craniosynostosis)
Rocker bottom feet (feet with a rounded bottom)

Last updated: 5/7/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormality of cardiovascular system morphology 0030680
Arthrogryposis multiplex congenita 0002804
Autosomal recessive inheritance 0000007
Congenital contracture 0002803
Congenital onset
Symptoms present at birth
0003577
Myopathy
Muscle tissue disease
0003198
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ] 		0003202
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] 		0001762
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Last updated: 7/1/2020
In arthrogryposis multiplex congenita neurogenic type (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.[3][4] In these families, genetic linkage studies may give information on how the condition is being passed through the family.[3][6] The cause of AMCN is poorly understood. To date no single gene mutation has been found to cause AMCN.
Last updated: 5/7/2015

Treatment of arthrogryposis (joint contracture) involves occupational and physical therapy, well-fitted orthoses (splints and braces), and corrective surgery (if indicated). With treatment most kids can improve their range of motion, muscle strength, and function.[3]

Last updated: 5/7/2015

Management Guidelines

  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
Long term outlook is good for most people with AMCN, however symptoms can vary greatly. Life threatening respiratory problems in early infancy (first year of life) has been rarely reported. Some infants with AMCN have significant feeding problems, particularly those with brain malformation or small jaw (micrognathia).[3] Children with AMCN affecting lower limbs are often able to walk, but may require knee ankle foot orthoses or corrective footwear.[3] AMCN does not tend to worsen over time. Muscle strength does not tend to worsen, however contractures can lead to worsening of function ability.[3] In the absence of brain malformations, outlook for cognition and learning is good.[3]
Last updated: 5/7/2015

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Harold Chen. Arthrogryposis. Medscape Reference. August 11, 2011; http://emedicine.medscape.com/article/941917-overview. Accessed 6/12/2012.
  2. Hall JG. Arthrogryposis Multiplex Congenita. National Organization for Rare Disorders. February 2013; https://rarediseases.org/rare-diseases/arthrogryposis-multiplex-congenita/.
  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.
  5. Harold Chen, MD, MS, FAAP, FACMG. Arthrogryposis. Medscape Reference. February 2013; http://emedicine.medscape.com/article/941917-overview.
  6. Arthrogryposis multiplex congenita, neurogenic type. OMIM. Last Edited February 2009; http://www.omim.org/entry/208100. Accessed 5/7/2015.