Living with Severe neonatal-onset encephalopathy with microcephaly
A genetic condition, mainly in males, that affects brain function, muscle tone, breathing and feeding from the first week of life.
Understanding Severe neonatal-onset encephalopathy with microcephaly
Babies seem typical at birth, then develop severe brain dysfunction (encephalopathy) in the first week of life. They have a small head, low muscle tone, movement problems, stiffness and seizures. Poor feeding can lead to slow weight gain. Breathing problems are common, including pauses in breathing (apnea), and some babies need a machine to help them breathe. GARD says it is the most severe of several conditions with the same genetic cause.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Low muscle tone in newborns
- Seizures
- Pauses in breathing (apnea)
- Poor suck and feeding trouble
- Severe developmental delay
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 MECP2 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
- Brain and nervous system specialists (neurologists); 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
GARD lists changes in the MECP2 gene. The condition is X-linked, meaning the gene is on the X chromosome.
Also known as: encephalopathy, neonatal severe; encephalopathy, neonatal severe, x-linked recessive; mecp2-related severe neonatal encephalopathy; severe congenital encephalopathy due to mecp2 (methyl-cpg binding protein 2) mutation; severe congenital encephalopathy due to mecp2 mutation; severe congenital encephalopathy due to methyl-cpg binding protein 2 mutation
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
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Perspectives from people navigating life with Severe neonatal-onset encephalopathy with microcephaly.
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