Living with Infantile epileptic dyskinetic encephalopathy
A genetic epilepsy condition starting in infancy with spasms, movement problems, and serious developmental effects.
Understanding Infantile epileptic dyskinetic encephalopathy
Next come writhing movements (chorea) and widespread muscle tightness (dystonia). It can progress to stiff, uncontrolled movements in all four limbs, repeated severe dystonia episodes, seizures that are hard to control, and severe intellectual disability.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes:
- Developmental delay
- Infantile spasms
- Chorea (writhing movements)
- Widespread dystonia (muscle tightness)
- Hard-to-control focal seizures
- Severe intellectual disability
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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in ARX 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
Dystonia Medical Research Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Dystonia Medical Research Foundation, 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 Dystonia Medical Research Foundation 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 ARX gene cause this condition. It is inherited in an X-linked pattern, meaning the gene is on the X chromosome.
Also known as: infantile epileptic-dyskinetic encephalopathy
Patient organizations
- Dystonia Medical Research FoundationDystonia · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Infantile epileptic dyskinetic encephalopathy.
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