Living with Ehlers-Danlos syndrome due to tenascin-X deficiency
An inherited connective tissue condition with loose joints, stretchy skin, easy bruising, muscle weakness, and tiredness.
Understanding Ehlers-Danlos syndrome due to tenascin-X deficiency
People have very flexible joints, stretchy skin, and easy bruising, but not the wide, thin scars seen in classic EDS. Other findings include hand and foot differences, leg swelling without heart failure, mild muscle weakness, and nerve damage. Prolapse of the vagina, uterus, or rectum can occur, and tissue fragility has been reported. Fatigue is reported in more than half of affected people. Severity varies, even within a family.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very flexible joints
- Stretchy skin and easy bruising
- Joint pain and muscle aches
- Muscle weakness
- Nerve damage (peripheral neuropathy)
- Tiredness (fatigue)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, bone and joint specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in TNXB are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Ehlers-Danlos Society and Bobby Jones Chiari & Syringomyelia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Ehlers-Danlos Society, Bobby Jones Chiari & Syringomyelia Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Ehlers-Danlos Society and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the TNXB gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: classical-like eds type 1; classical-like ehlers-danlos syndrome type 1; cleds type 1; eds due to tnx deficiency; eds, classic-like type; edscll1
Patient organizations
- Ehlers-Danlos SocietyEhlers-Danlos syndrome due to tenascin-X deficiency · United States
- Bobby Jones Chiari & Syringomyelia FoundationEhlers-Danlos syndrome due to tenascin-X deficiency · United States
- Coalition for Heritable Disorders of Connective TissueEhlers-Danlos syndrome due to tenascin-X deficiency · United States
- The Zebra NetworkEhlers-Danlos syndrome due to tenascin-X deficiency · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ehlers-Danlos syndrome due to tenascin-X deficiency.
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