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Disease Profile

Ankylosing spondylitis

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

#N/A

ICD-10

#N/A

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)

Ankylosing spondyloarthritis; Bechterew syndrome; Marie-Strumpell spondylitis

Categories

Autoimmune / Autoinflammatory diseases; Musculoskeletal Diseases

Summary

Ankylosing spondylitis (AS) is a type of chronic, inflammatory arthritis that mainly affects the spine. It usually begins with inflammation of the joints between the pelvic bones and spine, gradually spreading to the joints between the vertebrae. Signs and symptoms usually begin in adolescence or early adulthood and may include back pain and stiffness. Back movement gradually becomes more limited as the vertebrae fuse together.[1] The condition may also affect the shoulders; ribs; hips; knees; and feet; as well as the eyes; bowel; and very rarely, the heart and lungs.[2] AS is likely caused by a combination of genetic and environmental factors; variations in several genes are thought to affect the risk to develop AS.[1] In most cases, treatment involves exercise and medications to relieve pain and inflammation.[2]

Symptoms

Ankylosing spondylitis (AS) primarily affects the spine, but may affect other parts of the body too. Signs and symptoms usually begin in adolescence or early adulthood and include back pain and stiffness. Back movement gradually becomes more limited over time as the vertebrae fuse together. Many affected people have mild back pain that comes and goes; others have severe, chronic pain. In very severe cases, the rib cage may become stiffened, making it difficult to breathe deeply.[1]

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 organs including the eyes, and very rarely, the heart and lungs.[2] Episodes of eye inflammation may cause eye pain and increased sensitivity to light (photophobia).[1]

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 arthritis
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

    The main goal of treatment for people with ankylosing spondylitis (AS) is to maximize long-term quality of life. This may involve easing symptoms of pain and stiffness; retaining function; preventing complications (such as contractures); and minimizing the effects of associated conditions.[5]

    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 physical therapy. Affected people are encouraged to speak with their health care provider before instituting any changes to an exercise regime. Video demonstrations of exercises tailored for ankylosing spondylitis are available for viewing through the National Ankylosing Spondylitis Society in the UK.

    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

      Organizations Providing General Support

        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

            1. Ankylosing spondylitis. Genetics Home Reference. September, 2014; https://ghr.nlm.nih.gov/condition/ankylosing-spondylitis.
            2. What Is Ankylosing Spondylitis?. NIAMS. November, 2014; https://www.niams.nih.gov/Health_Info/Ankylosing_Spondylitis/ankylosing_spondylitis_ff.asp.
            3. Ankylosing spondylitis. Spondylitis Association of America. 2013; https://www.spondylitis.org/about/as.aspx. Accessed 2/9/2015.
            4. Ankylosing spondylitis. NORD. July 23, 2007; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/143/viewAbstract. Accessed 2/9/2015.
            5. David T Yu. Assessment and treatment of ankylosing spondylitis in adults. UpToDate. Waltham, MA: UpToDate; December 18, 2014; Accessed 2/9/2015.
            6. Ankylosing spondylitis. MedlinePlus. April 20, 2013; https://www.nlm.nih.gov/medlineplus/ency/article/000420.htm.
            7. Lawrence H Brent. Ankylosing Spondylitis and Undifferentiated Spondyloarthropathy. Medscape Reference. January 20, 2016; https://emedicine.medscape.com/article/332945-overview.
            8. David T Yu. Assessment and treatment of ankylosing spondylitis in adults. UpToDate. Waltham, MA: UpToDate; August, 2015;

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