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Disease Profile

Arthrogryposis multiplex congenita neurogenic type

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.

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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)

AMCN; AMC, neurogenic type; Neurogenic type of AMC

Categories

Congenital and Genetic Diseases

Summary

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]

Symptoms

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)

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
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

Cause

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.

Treatment

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]

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.

      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.

        References

        1. Harold Chen. Arthrogryposis. Medscape Reference. August 11, 2011; https://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; https://emedicine.medscape.com/article/941917-overview.
        6. Arthrogryposis multiplex congenita, neurogenic type. OMIM. Last Edited February 2009; https://www.omim.org/entry/208100. Accessed 5/7/2015.

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