Arthrogryposis multiplex congenita

Información en español Title

Other Names:

Arthrogryposis; Congenital multiple arthrogryposis; Fibrous ankylosis of multiple joints; Arthrogryposis; Congenital multiple arthrogryposis; Fibrous ankylosis of multiple joints; Congenital arthromyodysplasia; Myodystrophia fetalis deformans; Guérin-Stern syndrome; Otto syndrome; Rocher-Sheldon syndrome; Rossi syndrome; Guerin-Stern syndrome See More

Categories:

Musculoskeletal Diseases

Summary Summary

Arthrogryposis multiplex congenita (AMC) 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 may lead to muscle atrophy. AMC is not a specific diagnosis, but rather a physical symptom that can be associated with many different medical conditions. It is suspected that AMC is related to decreased fetal movement during development which can have a variety of different causes, including environmental factors (i.e. maternal illness, limited space), single gene changes (autosomal dominant, autosomal recessive, X-linked), chromosomal abnormalities and various syndromes. Treatment varies based on the signs and symptoms found in each person, but may include physical therapy, removable splints, exercise, and/or surgery.^[1]^[2]

Last updated: 1/12/2015

Symptoms Symptoms

Arthrogryposis multiplex congenita (AMC) 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.^[2]^[1] In some cases, only a few joints are affected and the range of motion may be nearly normal. In people who are severely affected, every joint in the body can be involved, including the jaw and back.^[3] Muscles of affected limbs may be atrophied or underdeveloped. Soft tissue webbing may develop over the affected joint.^[2]^[1]

AMC is not a specific diagnosis, but rather a physical symptom that can be found in many different medical conditions. The signs and symptoms associated with AMC can, therefore, vary greatly in range and severity depending on the underlying condition.^[2]^[1]

Last updated: 1/12/2015

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormality of the gastric mucosa	Very frequent (present in 80%-99% of cases)
Abnormality of the pleura	Very frequent (present in 80%-99% of cases)
Abnormality of the wrist	Very frequent (present in 80%-99% of cases)
Aplasia/Hypoplasia of the lungs	Very frequent (present in 80%-99% of cases)
Congenital diaphragmatic hernia	Very frequent (present in 80%-99% of cases)
Depressed nasal ridge	Very frequent (present in 80%-99% of cases)
Gastroschisis	Very frequent (present in 80%-99% of cases)
Hip dislocation	Very frequent (present in 80%-99% of cases)
Low-set, posteriorly rotated ears	Very frequent (present in 80%-99% of cases)
Lymphedema	Very frequent (present in 80%-99% of cases)
Polyhydramnios	Very frequent (present in 80%-99% of cases)
Scoliosis	Very frequent (present in 80%-99% of cases)
Talipes	Very frequent (present in 80%-99% of cases)
Ulnar deviation of finger	Very frequent (present in 80%-99% of cases)

Last updated: 9/1/2017

Cause Cause

The exact cause of arthrogryposis multiplex congenita (AMC) is not fully understood. AMC is thought to be related to decreased fetal movement during development, which can occur for a variety of reasons.^[1]^[2] When a joint is not moved for a period of time, extra connective tissue may grow around it, fixing it in place. Lack of joint movement also means that tendons connected to the joint are not stretched to their normal length, which can make normal joint movement difficult.^[3]

In general, there are four causes for decreased fetal movement before birth:^[3]

Abnormal development of muscles. In most cases, the specific cause for this cannot be identified. Suspected causes include muscle diseases, maternal fever during pregnancy, and viruses which may damage the cells that transmit nerve impulses to the muscles.
Insufficient room in the uterus for normal movement. For example, multiple fetuses may be present, the mother may lack normal amounts of amniotic fluid or there may be uterine structural abnormalities.
Malformations of the central nervous system (the brain and/or spinal cord). In these cases, arthrogryposis is usually accompanied by a wide range of other symptoms.
Tendons, bones, joints or joint linings may develop abnormally. For example, tendons may not be connected to the proper place in a joint.

AMC can be a component of numerous condition caused by environmental factors, single gene changes (autosomal dominant, autosomal recessive, X-linked), chromosomal abnormalities and various syndromes.^[1]

Last updated: 1/13/2015

Inheritance Inheritance

Arthrogryposis multiplex congenita (AMC) is not inherited in most cases; however, a genetic cause can be identified in about 30% of affected people. It can be a component of many different genetic conditions, including those caused by a single gene change or a chromosomal abnormality, such as trisomy 18. Genetic conditions sometimes associated with AMC include some connective tissue disorders; muscle disorders such as muscular dystrophies or congenital myopathies; and certain mitochondrial disorders.^[2] Depending on the underlying genetic cause, it may be inherited in an autosomal recessive, autosomal dominant or X-linked manner. Some cases are thought to have multifactorial inheritance, which means that both genetic and environmental factors may play a role in causing the condition.^[1]

Last updated: 1/13/2015

Diagnosis Diagnosis

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Last updated: 1/13/2015

Treatment Treatment

The treatment of arthrogryposis multiplex congenita (AMC) varies based on the signs and symptoms present in each person and the severity of the condition. Early in life, physical therapy to stretch contractures can improve the range of motion of affected joints and prevent muscle atrophy. Splits can also be used in combination with these stretching exercises. For most types of arthrogryposis, physical and occupational therapy have proven very beneficial in improving muscle strength and increasing the range of motion of affected joints.^[3]^[1]^[2]

Some patients, however, have persistent functional difficulties despite a rigorous physical therapy regimen. In these cases, surgery may be recommended to achieve better positioning and increase the range of motion in certain joints. Rarely, tendon transfers have been done to improve muscle function.^[3]^[1]^[2]

Last updated: 1/13/2015

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.

Prognosis Prognosis

The long-term outlook (prognosis) for people with arthrogryposis multiplex congenita (AMC) depends on the severity of the condition, the underlying cause, and the affected person's response to therapy. The degree to which muscles and joints are affected varies significantly from person to person. AMC can be associated with a variety of conditions that are each characterized by unique symptoms.^[3]^[1]

In general, many people affected by AMC have a good prognosis. With physical therapy and other available treatments, substantial improvement in joint function and mobility is normally possible. Most people with AMC are of normal intelligence and are able to lead productive, independent lives as adults.^[3]^[1]

Last updated: 1/13/2015

Statistics Statistics

AMC affects approximately 1 in 3,000 individuals in the United States. The condition has been reported in individuals of Asian, African and European descent.^[2] It is more common in isolated populations such as Finland and the Bedouin community in Israel. The number of men and women affected is approximately equal.^[1]

Last updated: 1/13/2015

Do you have updated information on this condition? Let us know.

Research Research

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

ClinicalTrials.gov lists trials that are studying or have studied Arthrogryposis multiplex congenita. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Organizations Organizations

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

A National Support group for Arthrogryposis Multiplex Congenita (AVENUES)
P.O. Box 5192
Sonora, CA 95370
E-mail: info@avenuesforamc.com
Website: http://www.avenuesforamc.com
Arthrogryposis Multiplex Congenita Support Inc.
P.O. Box 6291
Spartanburg, SC 29304
E-mail: bod@amcsupport.org
Website: http://www.amcsupport.org
The Arthrogryposis Group
45 Milton Road
Hanwell, London, W7 1LQ United Kingdom
Telephone: 07508 679351
E-mail: help@arthrogryposis.co.uk
Website: http://www.arthrogryposis.co.uk/

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Healthcare Resources

Arthrogryposis Multiplex Congenita Support Inc. provides a listing of doctors and hospitals known for treating arthrogryposis multiplex congenita. Click on the link to access this list.

Learn More Learn More

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.

Where to Start

AVENUES: A National Support Group for Arthrogryposis Multiplex Congenita has an online pamphlet regarding Arthrogryposis multiplex congenita. Please click on the link to access this resource.
The American Association of Neuromuscular & Electrodiagnostic Medicine provides information about arthrogryposis multiplex congenita. Click on the link to view this information.
Arthrogryposis Multiplex Congenita Support, Inc offers an information page on Arthrogryposis multiplex congenita. Please click on the link to access this resource.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Merck Manual for health care professionals provides information on Arthrogryposis multiplex congenita.
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.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Arthrogryposis multiplex congenita. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
Young Investigator Initiative Career Development and Grant Mentoring Program
June 21, 2016

Other Conferences

4th Annual AMC Support Convention
July 16 - July 19, 2009
Philadelphia, PA
Web site to learn more: http://www.amcsupport.org/pa

Related Diseases Related Diseases

The following diseases are related to Arthrogryposis multiplex congenita. If you have a question about any of these diseases, you can contact GARD.

GARD Answers GARD Answers

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. Submit a new question

What would cause 2 children of the same family to have this disease, and how common is it? See answer
Two members of my immediate family died at birth as a result of arthrogryposis. Is this condition inherited? Can I have genetic testing done to determine my risk to have children with this condition? See answer
My daughter was born with Guérin-Stern syndrome, now more commonly known as arthrogryposis multiplex congenita or arthrogryposis. I would like information about this condition, as well as resources for group discussions, medical research, and specialists in the field. See answer

Have a question? Contact a GARD Information Specialist.

References References

Harold Chen, MD, MS, FAAP, FACMG. Arthrogryposis. Medscape Reference. February 2013; http://emedicine.medscape.com/article/941917-overview.
Hall JG. Arthrogryposis Multiplex Congenita. National Organization for Rare Disorders. February 2013; https://rarediseases.org/rare-diseases/arthrogryposis-multiplex-congenita/.
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.

Do you know of a review article? Send us your suggestions.