Living with Developmental and epileptic encephalopathy, 50
A rare condition, often found in infancy, with seizures, developmental delay, and red blood cell problems.
Understanding Developmental and epileptic encephalopathy, 50
The gene changes block a step that cells need to make glycans, which are sugar-based molecules. It is often diagnosed in infancy. Common symptoms are seizures, developmental delay, and red blood cell problems such as anemia and unusually shaped red blood cells. Symptoms can worsen over time.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Global developmental delay
- Loss of developmental skills
- Low muscle tone
- Anemia and unusual red blood cells
- Diarrhea
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 genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in CAD 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
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: 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 Epilepsy Foundation
- 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
Changes in the CAD gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: cad-cdg; cad-cdg - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation; carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation; carbohydrate deficient glycoprotein syndrome type iz; cdg syndrome type iz; cdg-iz
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Developmental and epileptic encephalopathy, 50.
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