Overview
Congenital muscular dystrophy with muscle hypertrophy and severe intellectual disability syndrome is an extremely rare inherited condition that affects both the muscles and the brain from birth or very early in life. This condition is now classified as 'obsolete' in medical databases, meaning it has been reclassified or merged into another diagnostic category as scientific understanding has improved. The disease was characterized by a combination of muscle problems present at birth (congenital muscular dystrophy), unusually enlarged or bulky muscles (muscle hypertrophy), and significant difficulties with thinking, learning, and development (severe intellectual disability). Children with this condition typically showed very low muscle tone (floppiness) despite having muscles that appeared large. Motor milestones such as sitting, standing, and walking were significantly delayed or never achieved. Cognitive development was also severely affected, with limited speech and communication abilities. Because this is an obsolete classification, patients previously diagnosed with this condition may now fall under a more specific type of congenital muscular dystrophy. Treatment has been primarily supportive, focusing on physical therapy, respiratory support, and management of complications. There are no curative treatments currently available for congenital muscular dystrophies in general.
Also known as:
Key symptoms:
Muscle weakness present from birthUnusually large or bulky muscles despite weaknessSevere intellectual disabilityVery low muscle tone (floppiness) in infancyDelayed or absent motor milestones like sitting and walkingDelayed or absent speech developmentDifficulty feeding in infancyBreathing difficultiesJoint stiffness or contracturesSeizures in some casesLimited ability to move independentlyPoor head control
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 OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome.
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 OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome.
Community
No community posts yet. Be the first to share your experience with OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome.
Start the conversation →Latest news about OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome
No recent news articles for OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome.
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.Has the diagnosis been updated to a more specific type of congenital muscular dystrophy based on current classifications?,What genetic testing has been done, and should additional testing be considered?,What is the expected course of the disease for my child specifically?,What therapies and interventions should we start right away?,How should we monitor and manage breathing problems?,Are there any clinical trials or research studies that my child might be eligible for?,What support services are available for our family?
Common questions about OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome
What is OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome?
Congenital muscular dystrophy with muscle hypertrophy and severe intellectual disability syndrome is an extremely rare inherited condition that affects both the muscles and the brain from birth or very early in life. This condition is now classified as 'obsolete' in medical databases, meaning it has been reclassified or merged into another diagnostic category as scientific understanding has improved. The disease was characterized by a combination of muscle problems present at birth (congenital muscular dystrophy), unusually enlarged or bulky muscles (muscle hypertrophy), and significant diffic
How is OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome inherited?
OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome typically begin?
Typical onset of OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome is neonatal. Age of onset can vary across affected individuals.