Living with Encephalopathy, recurrent, of childhood
A rare genetic condition with repeated episodes of brain illness in childhood, usually after a fever.
Understanding Encephalopathy, recurrent, of childhood
Episodes begin in infancy or childhood, usually after an illness with fever. During an episode, a person may suddenly have poor balance, sleepiness, trouble speaking, odd movements, or seizures. Episodes last from a day to weeks. Some people are left with problems such as speech trouble or poor coordination.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor balance and coordination (ataxia)
- Muscle stiffness or spasms (spasticity)
- Rigidity
- Reflexes that are weak or missing
- Unusually flexible joints
- Movement problems
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Ataxia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Ataxia 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 National Ataxia 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
This condition is autosomal dominant, which means a change in one copy of the gene can cause it. GARD does not name the gene.
Also known as: encephalopathy recurrent of childhood; neuhauser eichner opitz syndrome; neuhauser-eichner-opitz syndrome; recurrent encephalopathy of childhood; recurrent encephalophathy of childhood
Patient organizations
- National Ataxia FoundationAtaxia · 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 Encephalopathy, recurrent, of childhood.
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