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Disease Profile
Ankylosing spondylitis
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.
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Age of onset
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ICD-10
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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)
Ankylosing spondyloarthritis; Bechterew syndrome; Marie-Strumpell spondylitis
Categories
Autoimmune / Autoinflammatory diseases; Musculoskeletal Diseases
Summary
Ankylosing spondylitis (AS) is a type of chronic, inflammatory
Symptoms
In some people, the condition involves other areas of the body, such as the shoulders, hips, knees, and/or the small joints of the hands and feet.[2][3] It may affect various places where tendons and ligaments attach to the bones. Sometimes it can affect other
Neurological complications of AS may include an inability to control urination and bowel movements (incontinence), and the absence of normal reflexes in the ankles due to pressure on the lower portion of the spinal cord (cauda equina).[4]
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 | ||
Anterior uveitis | 0012122 | |
Aortic regurgitation | 0001659 | |
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] |
0011675 |
Back pain | 0003418 | |
Enthesitis | 0100686 | |
Hip osteoarthritis | 0008843 | |
Inflammation of the large intestine | 0002037 | |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Multifactorial inheritance | 0001426 | |
Oligoarthritis | 0040313 | |
Psoriasiform dermatitis | 0003765 | |
Sacroiliac |
0012317 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the 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
Education, exercise, and medications are all very important in managing AS. An exercise program is recommended for all affected people, and some may need individual
Medications may include nonsteroidal anti-inflammatory drugs (NSAIDs); pain relievers; sulfasalazine; and anti-tumor necrosis factor drugs. Steroid injections may be helpful for some people. Most people don't need surgery, but it may be indicated when there is severe, persistent pain or severe limitation in mobility and quality of life. Smoking creates additional problems for people with AS, so affected people who smoke should quit.[5]
More detailed information about the treatment of ankylosing spondylitis is available on Medscape's Web site. You may need to register to view the article, but registration is free.
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
-
Arthritis Foundation
1355 Peachtree St. NE
6th Floor
Atlanta, GA 30309
Toll-free: 1-844-571-HELP (4357)
Telephone: +1-404-872-7100
Website: https://www.arthritis.org -
Canadian Spondylitis Association (CSA)
Canada
Telephone: +1-705-715-2162
E-mail: [email protected]
Website: https://www.spondylitis.ca -
KickAS.org
11688 North Sage Brook Road
Oro Valley, AZ 85737-7342
Telephone: 520-544-3023
E-mail: [email protected]
Website: https://www.kickas.org -
National Ankylosing Spondylitis Society
P.O. Box 179
Mayfield
East Sussex Intl TN20 6ZL
United Kingdom
Telephone: 014-35 -873527
E-mail: [email protected]
Website: https://www.nass.co.uk -
Spondylitis Association of America
16360 Roscoe Blvd. Ste. 100
Van Nuys, CA 91406
Toll-free: 1-800-777-8189
Telephone: +1-818-892-1616
E-mail: [email protected]
Website: https://www.spondylitis.org/ -
The Arthritis Society
393 University Avenue, Suite 1700
Toronto, Ontario M5G 1E6
Canada
Toll-free: 1-800-321-1433
Telephone: +1-416-979-7228
Fax: +1-416-979-8366
E-mail: [email protected]
Website: https://arthritis.ca/
Organizations Providing General Support
-
American Autoimmune Related Diseases Association (AARDA)
19176 Hall Road, Suite 130
Clinton Township, MI 48038
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: [email protected]
Website: https://www.aarda.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.
Where to Start
- MayoClinic.com provides information about ankylosing spondylitis. Click on the link above to access this information.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- MedlinePlus Genetics contains information on Ankylosing spondylitis. This website is maintained by the National Library of Medicine.
- The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on this topic.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.
- 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 Ankylosing spondylitis. Click on the link to view a sample search on this topic.
References
- Ankylosing spondylitis. Genetics Home Reference. September, 2014; https://ghr.nlm.nih.gov/condition/ankylosing-spondylitis.
- What Is Ankylosing Spondylitis?. NIAMS. November, 2014; https://www.niams.nih.gov/Health_Info/Ankylosing_Spondylitis/ankylosing_spondylitis_ff.asp.
- Ankylosing spondylitis. Spondylitis Association of America. 2013; https://www.spondylitis.org/about/as.aspx. Accessed 2/9/2015.
- Ankylosing spondylitis. NORD. July 23, 2007; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/143/viewAbstract. Accessed 2/9/2015.
- David T Yu. Assessment and treatment of ankylosing spondylitis in adults. UpToDate. Waltham, MA: UpToDate; December 18, 2014; Accessed 2/9/2015.
- Ankylosing spondylitis. MedlinePlus. April 20, 2013; https://www.nlm.nih.gov/medlineplus/ency/article/000420.htm.
- Lawrence H Brent. Ankylosing Spondylitis and Undifferentiated Spondyloarthropathy. Medscape Reference. January 20, 2016; https://emedicine.medscape.com/article/332945-overview.
- David T Yu. Assessment and treatment of ankylosing spondylitis in adults. UpToDate. Waltham, MA: UpToDate; August, 2015;
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