Ehlers-Danlos-like syndrome due to tenascin-X deficiency

Common Name(s)

Ehlers-Danlos-like syndrome due to tenascin-X deficiency

Ehlers-Danlos syndrome (EDS) is a rare tissue disorder that has six specific types. EDS affects a person’s connective tissue, which separates, connects and supports different organs in the body. People with EDS usually cannot make enough normal collagen, a connective tissue protein.

Ehlers-Danlos syndrome, tenascin-X deficient type (TNX-deficient EDS) is a very rare form of EDS but has many of the same symptoms as classical type EDS. These symptoms include easy bruising, abnormally stretchy skin (hyperextensible), very loose joints with an abnormally large range of movement (hypermobility), and joints that dislocate/ subluxate easily. However, unlike classical type, which is known for slow wound healing and “cigarette paper” (atrophic) scars, people with TNX-deficient EDS experience normal wound healing and scarring. Other symptoms may include velvety skin, joint pain, and muscle weakness. Some cases have included mitral valve prolapse, which affects blood flow between the chambers of the heart.

There is no cure for TNX-deficient EDS; it is a life-long condition that requires close monitoring. Management includes physical therapy and lifestyle changes. Echocardiograms (ultrasound scans of the heart) are also recommended to check the heart valves.

TNX-deficient EDS is passed through families in an autosomal recessive manner, meaning that a person needs to inherit two copies of the changed gene to develop the disorder. It is caused by mutations in the TNXB gene, which contains the instructions needed to make the protein Tenascin-X. Tenascin-X binds collagen together in the body and is important in making connective tissues.

If you or your child has been diagnosed with TNX-deficient EDS, talk to your doctor about the most current treatment options. A genetic counselor can be helpful to discuss inheritance and risks to other family members. Support groups are also available for more resources and information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ehlers-Danlos-like syndrome due to tenascin-X deficiency" for support, advocacy or research.

Ehlers-Danlos National Foundation

Ehlers-Danlos National Foundation creates resources for those affected by the connective tissue disorder Ehlers-Danlos Syndrome.

Last Updated: 2 Jul 2015

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Ehlers-Danlos Support UK

EDS UK was set up in 1987 to support, advise and inform those living with Ehlers-Danlos Syndrome. We aim to help them live a full, active and positive life. Over 25 years later, we remain the only UK based charity that exclusively represents and supports people with all types of EDS. We run regular events and conferences to bring our community together, and produce literature and merchandise to increase understanding and improve management of the condition. We have over 30 support groups around the country to provide our members with a local peer support network and we hope to expand this

Last Updated: 17 Aug 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ehlers-Danlos-like syndrome due to tenascin-X deficiency" for support, advocacy or research.

Ehlers-Danlos National Foundation

Ehlers-Danlos National Foundation creates resources for those affected by the connective tissue disorder Ehlers-Danlos Syndrome.

http://www.ednf.org

Last Updated: 2 Jul 2015

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Ehlers-Danlos Support UK

EDS UK was set up in 1987 to support, advise and inform those living with Ehlers-Danlos Syndrome. We aim to help them live a full, active and positive life. Over 25 years later, we remain the only UK based charity that exclusively represents and supports people with all types of EDS. We run regular events and conferences to bring our community together, and produce literature and merchandise to increase understanding and improve management of the condition. We have over 30 support groups around the country to provide our members with a local peer support network and we hope to expand this

http://www.ehlers-danlos.org

Last Updated: 17 Aug 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Ehlers-Danlos-like syndrome due to tenascin-X deficiency" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Ehlers-Danlos-like syndrome due to tenascin-X deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.