Living with Lissencephaly with cerebellar hypoplasia type A
A rare genetic brain condition with a smooth brain surface, thick outer brain layer, and a small cerebellum.
Understanding Lissencephaly with cerebellar hypoplasia type A
The outer layer of the brain (cortex) is thickened, and the cerebellum, which coordinates movement, is smaller than usual, mostly in the middle part. It may be noticed during pregnancy or in newborns.
Signs & symptoms
GARD doesn't list a symptom list for this condition. Its summary describes these brain features:
- Smooth brain surface (classical lissencephaly)
- Thickened outer brain layer
- Small cerebellum (cerebellar hypoplasia)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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 Child Neurology 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
GARD says the condition is genetic but doesn't name a gene or inheritance pattern.
Also known as: lissencephaly co-occurrent with congenital cerebellar hypoplasia type a
Patient organizations
- Child Neurology FoundationLissencephaly with cerebellar hypoplasia type A · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Lissencephaly with cerebellar hypoplasia type A.
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