Overview
EMILIN-1-related connective tissue disease is a rare inherited disorder caused by changes (mutations) in the EMILIN1 gene. This gene provides instructions for making a protein called EMILIN-1, which is an important building block of the extracellular matrix — the network of proteins that holds tissues together and gives them strength and flexibility. When this protein does not work properly, connective tissues throughout the body can become fragile or disorganized, leading to a wide range of symptoms. The disease mainly affects the peripheral nervous system, blood vessels, skin, and joints. People with this condition may experience nerve damage in the arms and legs (peripheral neuropathy), causing numbness, tingling, weakness, or pain. Skin may be unusually stretchy or fragile, and joints may be overly flexible (hypermobile). Blood vessel walls can also be affected, which may raise the risk of vascular complications. The condition is sometimes grouped under the broader category of hereditary peripheral neuropathies. Treatment is currently focused on managing symptoms rather than correcting the underlying cause. There is no cure or disease-modifying therapy approved specifically for this condition. Care typically involves a team of specialists including neurologists, geneticists, and physical therapists. Because this disease is very rare and only recently described, research is still ongoing to better understand its full range of effects and to develop targeted treatments.
Key symptoms:
Numbness or tingling in the hands and feetMuscle weakness in the arms and legsOverly flexible or loose joints (hypermobility)Stretchy or fragile skinPain in the limbs or nervesDifficulty walking or with balanceEasy bruisingFatigueReduced reflexesPossible blood vessel fragility
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for EMILIN-1-related connective tissue disease.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for EMILIN-1-related connective tissue disease at this time.
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Specialists
View all specialists →No specialists are currently listed for EMILIN-1-related connective tissue disease.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to EMILIN-1-related connective tissue disease.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What genetic testing do you recommend to confirm my diagnosis, and should my family members be tested too?,How quickly might my symptoms progress, and what signs should I watch for?,Are there any clinical trials or research studies I could join?,What specialists should be part of my care team, and how often should I be seen?,What can I do to protect my joints and blood vessels given my diagnosis?,Are there any medications or activities I should avoid because of this condition?,Where can I connect with other patients or families affected by EMILIN-1-related disease?
Common questions about EMILIN-1-related connective tissue disease
What is EMILIN-1-related connective tissue disease?
EMILIN-1-related connective tissue disease is a rare inherited disorder caused by changes (mutations) in the EMILIN1 gene. This gene provides instructions for making a protein called EMILIN-1, which is an important building block of the extracellular matrix — the network of proteins that holds tissues together and gives them strength and flexibility. When this protein does not work properly, connective tissues throughout the body can become fragile or disorganized, leading to a wide range of symptoms. The disease mainly affects the peripheral nervous system, blood vessels, skin, and joints. P
How is EMILIN-1-related connective tissue disease inherited?
EMILIN-1-related connective tissue disease follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.