Overview
Congenital muscular dystrophy with intellectual disability and severe epilepsy is an extremely rare genetic condition that affects muscles, the brain, and the nervous system from birth or very early in life. The term 'congenital muscular dystrophy' means that muscle weakness and wasting are present at or shortly after birth. In this particular form, children also experience significant intellectual disability, meaning learning and thinking skills are much lower than expected for their age, along with severe epilepsy — frequent and hard-to-control seizures. This condition falls under a group of disorders related to abnormal processing of sugars that are attached to proteins (a process called glycosylation). The ICD-10 classification under E77.8 reflects this connection to glycosylation pathway problems. Children with this condition typically show very low muscle tone (floppiness), difficulty feeding, delayed or absent motor milestones such as sitting or walking, and seizures that often begin in infancy. Brain imaging frequently shows structural abnormalities. There is currently no cure for this condition. Treatment focuses on managing symptoms, including anti-seizure medications, physical therapy to maintain muscle function, nutritional support, and developmental therapies. A team of specialists is needed to provide the best possible care and quality of life for affected children and their families.
Also known as:
Key symptoms:
Severe muscle weakness from birthVery low muscle tone (floppiness)Intellectual disabilitySevere seizures that are hard to controlDelayed or absent motor milestonesDifficulty feeding or swallowingLimited or no ability to walkBrain abnormalities visible on MRIPoor head controlEye problems or abnormal eye movementsJoint stiffness or contracturesBreathing difficultiesSpeech delay or absence of speechFailure to thrive or poor weight gain
Clinical phenotype terms (40)— hover any for plain English
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 intellectual disability and severe epilepsy.
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Specialists
View all specialists →No specialists are currently listed for Congenital muscular dystrophy with intellectual disability and severe epilepsy.
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 and severe epilepsy.
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 gene mutation is causing my child's condition, and what does that mean for their outlook?,What seizure medications do you recommend, and what are the side effects we should watch for?,Should we consider a ketogenic diet or other non-medication approaches for seizure control?,What therapies (physical, occupational, speech) should we start, and how often?,Does my child need a feeding tube, and when should we consider one?,What emergency plan should we have in place for prolonged seizures?,What is the chance of having another child with this condition, and should we pursue genetic counseling?
Common questions about Congenital muscular dystrophy with intellectual disability and severe epilepsy
What is Congenital muscular dystrophy with intellectual disability and severe epilepsy?
Congenital muscular dystrophy with intellectual disability and severe epilepsy is an extremely rare genetic condition that affects muscles, the brain, and the nervous system from birth or very early in life. The term 'congenital muscular dystrophy' means that muscle weakness and wasting are present at or shortly after birth. In this particular form, children also experience significant intellectual disability, meaning learning and thinking skills are much lower than expected for their age, along with severe epilepsy — frequent and hard-to-control seizures. This condition falls under a group o
How is Congenital muscular dystrophy with intellectual disability and severe epilepsy inherited?
Congenital muscular dystrophy with intellectual disability and severe epilepsy 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 intellectual disability and severe epilepsy typically begin?
Typical onset of Congenital muscular dystrophy with intellectual disability and severe epilepsy is neonatal. Age of onset can vary across affected individuals.