Living with EMILIN-1-related connective tissue disease
A rare inherited condition with weakness and nerve damage in the lower legs, and in some people stretchy skin, easy bruising, and weak blood vessels.
Understanding EMILIN-1-related connective tissue disease
It causes nerve problems in the lower legs with muscle weakness and wasting. Some people also have signs of connective tissue disease, such as stretchy skin, easy bruising without sunken scars, slower clotting, aortic aneurysms (bulges in the large artery), very flexible joints, and repeated tendon tears. It begins in adulthood.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition, but the summary describes these features:
- Weakness and wasting in the lower legs
- Nerve damage in the feet and legs
- Stretchy skin
- Easy bruising
- Aortic aneurysm in some people
- Repeated tendon tears in some people
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 brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in EMILIN1 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
The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The Foundation for Peripheral Neuropathy
- 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 The Foundation for Peripheral Neuropathy 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 EMILIN1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: elastin microfibril interfacer 1 related connective tissue disease
Patient organizations
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with EMILIN-1-related connective tissue disease.
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