Overview
Congenital muscular dystrophy with integrin alpha-7 deficiency (also called ITGA7-related congenital muscular dystrophy or CMD with integrin alpha-7 deficiency) is a rare inherited muscle disease that is present from birth or becomes apparent in early infancy. It is caused by changes (mutations) in the ITGA7 gene, which provides instructions for making a protein called integrin alpha-7. This protein acts like a glue that helps hold muscle fibers together and keeps them stable during movement. Without enough working integrin alpha-7, muscle fibers become fragile and break down over time. Children with this condition typically show signs of muscle weakness very early in life. Common features include low muscle tone (floppiness) at birth, delays in reaching motor milestones like sitting and walking, and weakness in the muscles of the arms, legs, and trunk. Some children may also have mild intellectual or developmental delays, though this is not always present. The muscles of the face and those involved in breathing can also be affected in some cases. There is currently no cure for this condition. Treatment focuses on managing symptoms and improving quality of life. This includes physical therapy to maintain strength and mobility, occupational therapy to support daily activities, and respiratory monitoring to protect breathing function. A team of specialists works together to help children and families manage the condition as effectively as possible.
Also known as:
Key symptoms:
Low muscle tone (floppiness) from birthMuscle weakness in the arms, legs, and trunkDelayed motor milestones such as sitting, standing, or walkingDifficulty climbing stairs or rising from the floorReduced ability to run or keep up with peersMild intellectual or developmental delays in some childrenPossible breathing difficulties due to weak respiratory musclesMuscle wasting (loss of muscle bulk) over timeJoint stiffness or contractures in some casesFatigue with physical activity
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Congenital muscular dystrophy with integrin alpha-7 deficiency.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Congenital muscular dystrophy with integrin alpha-7 deficiency at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Congenital muscular dystrophy with integrin alpha-7 deficiency.
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 Congenital muscular dystrophy with integrin alpha-7 deficiency.
Community
No community posts yet. Be the first to share your experience with Congenital muscular dystrophy with integrin alpha-7 deficiency.
Start the conversation →Latest news about Congenital muscular dystrophy with integrin alpha-7 deficiency
No recent news articles for Congenital muscular dystrophy with integrin alpha-7 deficiency.
Follow this condition to be notified when news becomes available.
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 specific mutation was found in the ITGA7 gene, and what does it mean for my child's prognosis?,How often should my child have breathing tests, and at what point might breathing support be needed?,What physical therapy program is best for my child right now, and how should it change as they grow?,Should other family members be tested to see if they are carriers of this condition?,Are there any clinical trials or research studies that my child might be eligible for?,What signs should prompt me to seek emergency care, and what should I tell emergency doctors about this condition?,What school accommodations or support services should we put in place for my child?
Common questions about Congenital muscular dystrophy with integrin alpha-7 deficiency
What is Congenital muscular dystrophy with integrin alpha-7 deficiency?
Congenital muscular dystrophy with integrin alpha-7 deficiency (also called ITGA7-related congenital muscular dystrophy or CMD with integrin alpha-7 deficiency) is a rare inherited muscle disease that is present from birth or becomes apparent in early infancy. It is caused by changes (mutations) in the ITGA7 gene, which provides instructions for making a protein called integrin alpha-7. This protein acts like a glue that helps hold muscle fibers together and keeps them stable during movement. Without enough working integrin alpha-7, muscle fibers become fragile and break down over time. Child
How is Congenital muscular dystrophy with integrin alpha-7 deficiency inherited?
Congenital muscular dystrophy with integrin alpha-7 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital muscular dystrophy with integrin alpha-7 deficiency typically begin?
Typical onset of Congenital muscular dystrophy with integrin alpha-7 deficiency is neonatal. Age of onset can vary across affected individuals.