Overview
Congenital muscular dystrophy without intellectual disability (CMD without intellectual disability) is a group of rare inherited muscle disorders that are present from birth or early infancy. Unlike some other forms of congenital muscular dystrophy, this type does not affect thinking, learning, or brain development. The main feature is muscle weakness that is noticeable from a very young age. Babies may appear floppy (a condition called hypotonia), have difficulty feeding, and may be slow to reach movement milestones like sitting up, crawling, or walking. The disease affects the skeletal muscles — the muscles used for movement. Over time, some children may develop joint stiffness (contractures) and curvature of the spine (scoliosis). The severity varies widely: some individuals can walk independently while others may need a wheelchair. Breathing muscles can also be affected, sometimes requiring respiratory support, especially during sleep or illness. There is currently no cure for congenital muscular dystrophy without intellectual disability. Treatment focuses on managing symptoms and maintaining quality of life. This includes physical therapy to preserve mobility and prevent contractures, orthopedic interventions for spine and joint problems, and respiratory support when needed. A team of specialists typically works together to provide comprehensive care. Early diagnosis and proactive management can significantly improve outcomes and help affected individuals live fuller lives.
Also known as:
Key symptoms:
Muscle weakness present from birth or early infancyFloppy baby (low muscle tone)Delayed motor milestones like sitting and walkingJoint stiffness or contracturesCurvature of the spine (scoliosis)Difficulty feeding in infancyBreathing difficulties, especially during sleepElevated creatine kinase levels in bloodDifficulty with fine motor tasksMuscle wasting over timeFatigue with physical activityRigid spine in some subtypesSkin changes in some subtypes (such as Ullrich CMD)
Clinical phenotype terms (27)— 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 without intellectual disability.
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Specialists
View all specialists →No specialists are currently listed for Congenital muscular dystrophy without intellectual disability.
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 without 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
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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 of congenital muscular dystrophy does my child have, and what does that mean for their future?,How often should we have respiratory function tested, and what signs of breathing problems should we watch for?,What physical therapy program is recommended, and how often should sessions occur?,Are there any clinical trials or emerging treatments that might be relevant for our specific subtype?,What school accommodations should we request to support my child's learning and participation?,Should other family members be tested for this genetic condition?,What is the recommended schedule for follow-up visits with each specialist on the care team?
Common questions about Congenital muscular dystrophy without intellectual disability
What is Congenital muscular dystrophy without intellectual disability?
Congenital muscular dystrophy without intellectual disability (CMD without intellectual disability) is a group of rare inherited muscle disorders that are present from birth or early infancy. Unlike some other forms of congenital muscular dystrophy, this type does not affect thinking, learning, or brain development. The main feature is muscle weakness that is noticeable from a very young age. Babies may appear floppy (a condition called hypotonia), have difficulty feeding, and may be slow to reach movement milestones like sitting up, crawling, or walking. The disease affects the skeletal musc
At what age does Congenital muscular dystrophy without intellectual disability typically begin?
Typical onset of Congenital muscular dystrophy without intellectual disability is neonatal. Age of onset can vary across affected individuals.