Overview
Congenital muscular dystrophy with intellectual disability (sometimes called CMD with intellectual disability) is a rare inherited condition that affects both the muscles and the brain from birth or very early in life. The term 'congenital' means the condition is present at birth, and 'muscular dystrophy' refers to progressive muscle weakness and wasting. In this form, children also experience intellectual disability, meaning they have difficulties with learning, reasoning, and problem-solving that are noticeable from early development. Babies with this condition are often described as 'floppy' (having low muscle tone) and may have trouble feeding, breathing, or moving in the first weeks or months of life. As children grow, they may have delayed motor milestones such as sitting, crawling, or walking, and some may never achieve independent walking. Intellectual disability can range from mild to severe, and some children may also have seizures, eye abnormalities, or structural brain changes visible on MRI. There is currently no cure for this condition. Treatment focuses on managing symptoms and improving quality of life. This includes physical therapy to maintain muscle function and prevent joint contractures, occupational therapy, speech therapy, and educational support. Respiratory care and nutritional support may also be needed. A team of specialists typically works together to provide comprehensive care for affected individuals and their families.
Also known as:
Key symptoms:
Muscle weakness present from birthLow muscle tone (floppiness)Intellectual disability or learning difficultiesDelayed motor milestones such as sitting and walkingDifficulty feeding as a babyJoint stiffness or contracturesBreathing difficultiesSeizures in some casesEye problems or vision difficultiesSpeech and language delaysScoliosis or spinal curvaturePoor head control in infancyDifficulty gaining weight or growingBrain abnormalities seen on MRI
Clinical phenotype terms (43)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Congenital muscular dystrophy with intellectual disability.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Congenital muscular dystrophy with intellectual disability at this time.
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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 intellectual disability.
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 specific genetic subtype does my child have, and what does that mean for their outlook?,What therapies should we start right away, and how often should they occur?,Are there any clinical trials or emerging treatments that might be relevant for my child?,What signs of respiratory problems should I watch for, and when should I seek emergency care?,How will this condition affect my child's learning, and what educational supports are available?,Should other family members be tested for this genetic condition?,What specialists should be part of my child's care team, and how often should we see them?
Common questions about Congenital muscular dystrophy with intellectual disability
What is Congenital muscular dystrophy with intellectual disability?
Congenital muscular dystrophy with intellectual disability (sometimes called CMD with intellectual disability) is a rare inherited condition that affects both the muscles and the brain from birth or very early in life. The term 'congenital' means the condition is present at birth, and 'muscular dystrophy' refers to progressive muscle weakness and wasting. In this form, children also experience intellectual disability, meaning they have difficulties with learning, reasoning, and problem-solving that are noticeable from early development. Babies with this condition are often described as 'flopp
At what age does Congenital muscular dystrophy with intellectual disability typically begin?
Typical onset of Congenital muscular dystrophy with intellectual disability is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Congenital muscular dystrophy with intellectual disability?
4 specialists and care centers treating Congenital muscular dystrophy with intellectual disability are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.