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Disease Profile

Arthrogryposis multiplex congenita

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Neonatal

ICD-10

Q74.3

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Arthrogryposis; Congenital multiple arthrogryposis; Fibrous ankylosis of multiple joints;

Categories

Musculoskeletal Diseases

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]

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]

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.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal pleura morphology
0002103
Abnormality of the gastric mucosa
Abnormality of the mucous membrane layer of stomach
0004295
Abnormality of the wrist
Abnormalities of the wrists
0003019
Aplasia/Hypoplasia of the lungs
Absent/small lungs
Absent/underdeveloped lungs

[ more ]

0006703
Arthrogryposis multiplex congenita
0002804
Congenital diaphragmatic hernia
0000776
Depressed nasal ridge
Flat nose
Recessed nasal ridge

[ more ]

0000457
Gastroschisis
0001543
Hip dislocation
Dislocated hips
Dislocation of hip

[ more ]

0002827
Low-set, posteriorly rotated ears
0000368
Lymphedema
Swelling caused by excess lymph fluid under skin
0001004
Polyhydramnios
High levels of amniotic fluid
0001561
Scoliosis
0002650
Talipes
0001883
Ulnar deviation of finger
Finger bends toward pinky
0009465

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]

  1. 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.
  2. 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.
  3. 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.
  4. 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]

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.

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]

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.

    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

      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

        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.

          References

          1. Harold Chen, MD, MS, FAAP, FACMG. Arthrogryposis. Medscape Reference. February 2013; https://emedicine.medscape.com/article/941917-overview.
          2. Hall JG. Arthrogryposis Multiplex Congenita. National Organization for Rare Disorders. February 2013; https://rarediseases.org/rare-diseases/arthrogryposis-multiplex-congenita/.
          3. Arthrogryposis: What it is and how it is treated. A National Support Group for Arthrogryposis Multiplex Congenita (AVENUES). https://www.avenuesforamc.com/publications/pamphlet.htm. Accessed 10/15/2013.

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