Living with Congenital muscular dystrophy with intellectual disability and severe epilepsy
A rare genetic condition with weak muscles, severe developmental delay, and seizures starting in infancy.
Understanding Congenital muscular dystrophy with intellectual disability and severe epilepsy
Babies have breathing trouble and very low muscle tone at birth, severe developmental delay, and seizures that start early and are hard to control. Facial features can differ, and joints are stiff and bent from birth. Scoliosis, optic nerve changes, a mildly enlarged liver, and underdeveloped genitals may also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Low muscle tone (hypotonia)
- Global developmental delay
- Tight joints (contractures)
- Poor weight gain (failure to thrive)
- Scoliosis
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, digestive system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in DPM2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
CDG CARE and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: CDG CARE, Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with CDG CARE and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the DPM2 gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: carbohydrate deficient glycoprotein syndrome type 1u; carbohydrate deficient glycoprotein syndrome type iu; cdg iu; cdg syndrome type iu; cdg-iu; cdg1u
Patient organizations
- CDG CARECongenital muscular dystrophy with intellectual disability and severe epilepsy · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital muscular dystrophy with intellectual disability and severe epilepsy.
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