Arthrogryposis Multiplex Congenita

Common Name(s)

Arthrogryposis Multiplex Congenita, Arthrogryposis, Multiple congenital contractures

Arthrogryposis multiplex congenita (AMC) is a group of nonprogressive conditions characterized by multiple joint contractures (stiff joints) and abnormal muscle development. The signs and symptoms of AMC are present at birth but can vary greatly in range and severity. In most cases, affected infants have contractures of various joints which may include those of the legs and arms, shoulders, elbows, knees, wrists, ankles, fingers, toes, hips, jaws and/or back. The exact cause of AMC is not fully understood but is thought to be associated with various things including decreased movement or limited space in utero, connective tissue disorders, or maternal illness. Some cases occur as part of genetic disorders. Treatment focuses on the specific findings in each individual and may include physical therapy, removable splints, exercise, and/or surgery.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Arthrogryposis Multiplex Congenita" for support, advocacy or research.

Logo
Arthrogryposis Multiplex Congenita Support, Inc.

OUR MISSION: To provide and encourage more understanding and mutual support among anyone affected with the diagnosis of arthrogryposis multiplex congenita (AMC). To create a higher standard of AMC awareness by means of Conferences, Meetings, and Studies. OUR VISION: To provide educational material to new parents, or soon-to-be parents regarding the diagnosis of arthrogryposis multiplex congenita (AMC). To provide a resource of information to the medical field to include, but not limited to, occupational therapists, physical therapists to assist them in the treatment of a child or person with the diagnosis of AMC.

Last Updated: 15 Feb 2013

View Details
Logo
Avenues - National Support Group for Arthrogryposis Multiplex Congenita

Avenues is a support group for individuals, families, and medical professionals interested in Arthrogryposis Multiplex Congenita (AMC). AMC is a congenital condition characterized by multiple joint contractures.

Last Updated: 24 Nov 2009

View Details
Logo
Freeman-Sheldon Research Group, Inc.

The mission of the Freeman-Sheldon Research Group, Inc. (FSRG) is to provide a Judeo-Christian faith-based setting (1) to improve the quality of life of individuals with Freeman-Sheldon (FSS), Sheldon-Hall syndromes (SHS), and related entities by furthering research, clinical care, advocacy, and education for families, professionals, and the wider lay community; (2) for education and training in the health sciences; and (3) to facilitate fellowship and professional exchange concerning the above.

Last Updated: 11 Jul 2011

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Arthrogryposis Multiplex Congenita" for support, advocacy or research.

Logo
Arthrogryposis Multiplex Congenita Support, Inc.

OUR MISSION: To provide and encourage more understanding and mutual support among anyone affected with the diagnosis of arthrogryposis multiplex congenita (AMC). To create a higher standard of AMC awareness by means of Conferences, Meetings, and Studies. OUR VISION: To provide educational material to new parents, or soon-to-be parents regarding the diagnosis of arthrogryposis multiplex congenita (AMC). To provide a resource of information to the medical field to include, but not limited to, occupational therapists, physical therapists to assist them in the treatment of a child or person with the diagnosis of AMC.

http://www.amcsupport.org

Last Updated: 15 Feb 2013

View Details
Logo
Avenues - National Support Group for Arthrogryposis Multiplex Congenita

Avenues is a support group for individuals, families, and medical professionals interested in Arthrogryposis Multiplex Congenita (AMC). AMC is a congenital condition characterized by multiple joint contractures.

http://www.avenuesforamc.com

Last Updated: 24 Nov 2009

View Details
Logo
Freeman-Sheldon Research Group, Inc.

The mission of the Freeman-Sheldon Research Group, Inc. (FSRG) is to provide a Judeo-Christian faith-based setting (1) to improve the quality of life of individuals with Freeman-Sheldon (FSS), Sheldon-Hall syndromes (SHS), and related entities by furthering research, clinical care, advocacy, and education for families, professionals, and the wider lay community; (2) for education and training in the health sciences; and (3) to facilitate fellowship and professional exchange concerning the above.

http://fsrgroup.org

Last Updated: 11 Jul 2011

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Arthrogryposis Multiplex Congenita" returned 20 free, full-text research articles on human participants. First 3 results:

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
 

Author(s): Hiromi Hirata, Indrajit Nanda, Anne van Riesen, Gai McMichael, Hao Hu, Melanie Hambrock, Marie-Amélie Papon, Ute Fischer, Sylviane Marouillat, Can Ding, Servane Alirol, Melanie Bienek, Sabine Preisler-Adams, Astrid Grimme, Dominik Seelow, Richard Webster, Eric Haan, Alastair MacLennan, Werner Stenzel, Tzu Ying Yap, Alison Gardner, Lam Son Nguyen, Marie Shaw, Nicolas Lebrun, Stefan A Haas, Wolfram Kress, Thomas Haaf, Elke Schellenberger, Jamel Chelly, Géraldine Viot, Lisa G Shaffer, Jill A Rosenfeld, Nancy Kramer, Rena Falk, Dima El-Khechen, Luis F Escobar, Raoul Hennekam, Peter Wieacker, Christoph Hübner, Hans-Hilger Ropers, Jozef Gecz, Markus Schuelke, Frédéric Laumonnier, Vera M Kalscheuer

Journal: Am. J. Hum. Genet.. 2013 May;92(5):681-95.

 

Arthrogryposis multiplex congenita (AMC) is caused by heterogeneous pathologies leading to multiple antenatal joint contractures through fetal akinesia. Understanding the pathophysiology of this disorder is important for clinical care of the affected individuals and genetic counseling ...

Last Updated: 6 May 2013

Go To URL
Operative treatment of bilateral hip dislocation in children with arthrogryposis multiplex congenita.
 

Author(s): S Asif, M Umer, R Beg, M Umar

Journal: J Orthop Surg (Hong Kong). 2004 Jun;12(1):4-9.

 

Arthrogryposis multiplex congenita (AMC) is a rare syndrome with multiple joint contractures. It is commonly believed that bilaterally dislocated hips associated with joint contractures should not be reduced, because movement is satisfactory, while open reduction leads to poor results. ...

Last Updated: 6 Jul 2004

Go To URL
Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.
 

Author(s): S Brownlow, R Webster, R Croxen, M Brydson, B Neville, J P Lin, A Vincent, J Newsom-Davis, D Beeson

Journal: J. Clin. Invest.. 2001 Jul;108(1):125-30.

 

Limitation of movement during fetal development may lead to multiple joint contractures in the neonate, termed arthrogryposis multiplex congenita. Neuromuscular disorders are among the many different causes of reduced fetal movement. Many congenital myasthenic syndromes (CMSs) are ...

Last Updated: 3 Jul 2001

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Arthrogryposis Multiplex Congenita" returned 1 free, full-text review articles on human participants. First 3 results:

Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review.
 

Author(s): S P Horslen, O W Quarrell, M S Tanner

Journal: J. Med. Genet.. 1994 Jan;31(1):62-4.

 

We report three cases from two unrelated families of infants with arthrogryposis multiplex congenita, cholestatic jaundice, and renal Fanconi's syndrome. In both families the parents were consanguineous. All three children died by 7 months of age. This association was first reported ...

Last Updated: 10 May 1994

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
 

Status: Recruiting

Condition Summary: Arthrogryposis; Craniofacial Abnormalities

 

Last Updated: 21 Oct 2014

Go to URL
Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions
 

Status: Recruiting

Condition Summary: Arthrogryposis; Craniofacial Abnormalities

 

Last Updated: 14 Oct 2014

Go to URL
Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions
 

Status: Recruiting

Condition Summary: Arthrogryposis; Craniofacial Abnormalities; Posttraumatic Stress Disorder; Depressive Disorder

 

Last Updated: 21 Oct 2014

Go to URL