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Disease Profile
Arthrogryposis multiplex congenita neurogenic type
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
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
Symptoms
Arthrogryposis multiplex congenita neurogenic type (AMCN) causes multiple joint
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.,
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 | |
0000007 | ||
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
Treatment
Treatment of arthrogryposis (joint
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
-
Arthrogryposis Multiplex Congenita Support Inc.
P.O. Box 6291
Spartanburg, SC 29304
Toll-free: 1-805-55-AMCSI (1-805-552-6274)
Telephone: +1-805-552-6274
E-mail: [email protected]
Website: https://amcsupport.org
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
- Harold Chen. Arthrogryposis. Medscape Reference. August 11, 2011; https://emedicine.medscape.com/article/941917-overview. Accessed 6/12/2012.
- Hall JG. Arthrogryposis Multiplex Congenita. National Organization for Rare Disorders. February 2013; https://rarediseases.org/rare-diseases/arthrogryposis-multiplex-congenita/.
- 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.
- 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.
- Harold Chen, MD, MS, FAAP, FACMG. Arthrogryposis. Medscape Reference. February 2013; https://emedicine.medscape.com/article/941917-overview.
- Arthrogryposis multiplex congenita, neurogenic type. OMIM. Last Edited February 2009; https://www.omim.org/entry/208100. Accessed 5/7/2015.
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