Living with Developmental and epileptic encephalopathy, 36
A rare condition linked to the ALG13 gene, with seizures, a small head, an enlarged liver, infections, and bleeding.
Understanding Developmental and epileptic encephalopathy, 36
Features include a small head, an enlarged liver, swelling in the arms and legs, seizures that are hard to treat, repeated infections, and a tendency to bleed more. GARD lists onset in the newborn or infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Infantile spasms
- Low muscle tone
- Long space between nose and upper lip (long philtrum)
- Small head size (microcephaly)
- Enlarged liver
- Repeated infections
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 ALG13 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
Changes in the ALG13 gene cause this condition. It is X-linked, meaning the gene is on the X chromosome.
Also known as: alg13-cdg; alg13-cdg (congenital disorder of glycosylation); cdg syndrome type is; cdg-is; cdg1s; congenital disorder of glycosylation type 1s
Patient organizations
- CDG CAREDevelopmental and epileptic encephalopathy, 36 · United States
- CDG & Allies - PPAINDevelopmental and epileptic encephalopathy, 36 · Epilepsy Foundation
You are more than your diagnosis
Perspectives from people navigating life with Developmental and epileptic encephalopathy, 36.
Explore research for Developmental and epileptic encephalopathy, 36
Explore actively recruiting Developmental and epileptic encephalopathy, 36 studies with HealthSpark.
Find actively recruiting studies for Developmental and epileptic encephalopathy, 36 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Developmental and epileptic encephalopathy, 36 studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Developmental and epileptic encephalopathy, 36
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Developmental and epileptic encephalopathy, 36 experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.