Living with Bilateral generalized polymicrogyria
A rare brain condition with too many small folds across the whole surface of the brain, affecting learning, movement, and seizures.
Understanding Bilateral generalized polymicrogyria
It is present from before birth or infancy. Signs include severe intellectual disability, movement problems, and seizures that are hard to treat. It is thought to come from improper brain development in the womb.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability and developmental delay
- Seizures
- Muscle stiffness (spasticity)
- Low muscle tone in the trunk
- Trouble feeding
- Delayed walking and motor skills
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 GRIN1 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
GRIN2B Foundation, PMG Awareness Organization 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: GRIN2B Foundation, PMG Awareness Organization, 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 GRIN2B 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
The exact cause is not fully understood. GARD lists the GRIN1 gene. Most cases appear to follow an autosomal recessive pattern.
Also known as: bilateral generalised polymicrogyria; diffuse polymicrogyria; microcephaly, short stature, and polymicrogyria with seizures
Patient organizations
- GRIN2B FoundationBilateral generalized polymicrogyria · United States
- PMG Awareness OrganizationBilateral generalized polymicrogyria · United States
- CureGRINBilateral generalized polymicrogyria · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Bilateral generalized polymicrogyria.
Explore research for Bilateral generalized polymicrogyria
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