Living with Polyhydramnios, megalencephaly, and symptomatic epilepsy
A rare genetic brain condition with extra amniotic fluid in pregnancy, a large head and hard-to-control seizures from infancy.
Understanding Polyhydramnios, megalencephaly, and symptomatic epilepsy
Pregnancy is complicated by extra amniotic fluid (polyhydramnios). Babies have severe seizures that start in infancy and are hard to control, very low muscle tone, delayed development and a large head from an enlarged brain (megalencephaly) and sometimes fluid buildup (hydrocephalus). Facial differences include a long face and large forehead. Some people have heart differences, diabetes insipidus or kidney calcium deposits.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Extra amniotic fluid during pregnancy
- Seizures, including infantile spasms
- Low muscle tone (hypotonia)
- Large head (macrocephaly) and enlarged brain
- Delays in development
- Fluid-filled spaces in the brain (ventriculomegaly)
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 STRADA 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
Changes in the STRADA gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: pmse; pmse (polyhydramnios, megalencephaly, symptomatic epilepsy) syndrome; pmse syndrome; polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
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 Polyhydramnios, megalencephaly, and symptomatic epilepsy.
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