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Disease Profile

Thoracic outlet syndromes

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

-

ICD-10

G54.0

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)

TOS

Categories

Nervous System Diseases

Summary

Thoracic outlet syndromes (TOSs) are a group of disorders with one common feature: the compression of 1 or more of the nerves and/or blood vessels just above the first rib and behind the collarbone.[1][2] There are 4 recognized subtypes of TOS, each with a distinct cause and pattern of symptoms. A fifth subtype is controversial.[1][3][4] While thoracic outlet syndromes as a group are not rare, individual subtypes of TOS are considered rare.[4][5]

The subtypes include:[1][3][4]

  • Arterial TOS (A-TOS) due to compression of the subclavian artery, most commonly caused by a cervical rib. Symptoms may include blood clots, arm pain with exertion, or acute arterial thrombosis (sudden blood flow obstruction in an artery).
  • Venous TOS (V-TOS) due to compression of the subclavian vein, often associated with repetitive arm activities. It may cause pain, swelling, and deep vein thrombosis.
  • Traumatic neurovascular TOS occurs after trauma to the collarbone and may affect both nerves and vessels. Symptoms may include pain, swelling, bruising, weakness, and loss of sensation in the arm and hand.
  • True neurogenic TOS (TN-TOS) caused by compression of the brachial plexus. Symptoms include numbness, abnormal sensations, and weakness of the arms and shoulders, as well as pain in the neck, shoulder or hand.
  • Disputed TOS the vast majority of neurogenic cases. It is controversial whether it is a true form of TOS because it lacks a consistent physical abnormality, a recognized cause, consistent symptoms, a reliable method of testing, and a standard treatment. Pain and tingling or numbness in the neck, arm and hand are common complaints.

Treatment for TOS depends on the type and whether symptoms are present.[1] Treatment may involve physical therapy, oral or injected medication (e.g. pain medicine or steroids), thoracic outlet decompression surgery, and/or thrombolytic therapy.[1][6]

Symptoms

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
Paresthesia
Pins and needles feeling
Tingling

[ more ]

0003401
30%-79% of people have these symptoms
Abnormality of the ribs
Rib abnormalities
0000772
Arthralgia
Joint pain
0002829
Edema
Fluid retention
Water retention

[ more ]

0000969
Muscle weakness
Muscular weakness
0001324
Myalgia
Muscle ache
Muscle pain

[ more ]

0003326
5%-29% of people have these symptoms
EMG abnormality
0003457
Muscle spasm
0003394
Varicose veins
0002619
Venous thrombosis
Blood clot in vein
0004936

Diagnosis

Making the diagnosis of a thoracic outlet syndrome (TOS) can be hard because several disorders cause similar signs and symptoms. These may include rotator cuff injuries, cervical disc disorders, fibromyalgiamultiple sclerosiscomplex regional pain syndrome, and tumors of the syrinx or spinal cord.[6] TOS can sometimes be diagnosed based on a physical exam and specific symptoms present, but tests and imaging studies are often used to rule out other conditions.[1]

Further testing to rule out other conditions or confirm a suspected diagnosis of TOS may include:[1]

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 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 Thoracic outlet syndromes. Click on the link to view a sample search on this topic.

        References

        1. Goshima K. Overview of thoracic outlet syndromes. UpToDate. Waltham, MA: UpToDate; Apr 13, 2016; https://www.uptodate.com/contents/overview-of-thoracic-outlet-syndromes?source=search_result&search=thoracic%20outlet%20syndrome&selectedTitle=1~40.
        2. Thoracic outlet syndrome: symptoms and causes. Mayo Clinic. August 27, 2016; https://www.mayoclinic.org/diseases-conditions/thoracic-outlet-syndrome/symptoms-causes/dxc-20237890.
        3. Ferrante MA, Ferrante ND. The thoracic outlet syndromes: Part 1. Overview of the thoracic outlet syndromes and review of true neurogenic thoracic outlet syndrome. Muscle Nerve. June, 2017; 55(6):782-793. https://www.ncbi.nlm.nih.gov/pubmed/28006844.
        4. Ferrante MA, Ferrante ND. The thoracic outlet syndromes: Part 2. The arterial, venous, neurovascular, and disputed thoracic outlet syndromes. Muscle Nerve. March 21, 2017; [Epub ahead of print]:https://www.ncbi.nlm.nih.gov/pubmed/28006856.
        5. Rosenbaum DA. Thoracic Outlet Syndrome. Medscape Reference. November 11, 2016; https://emedicine.medscape.com/article/96412-overview.
        6. Thoracic Outlet Syndrome Information Page. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/All-Disorders/Thoracic-Outlet-Syndrome-Information-Page. Accessed 6/7/2017.

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