Living with Lissencephaly with cerebellar hypoplasia
A brain development condition with a smooth brain surface and a small cerebellum, causing delays, poor muscle tone, and seizures.
Understanding Lissencephaly with cerebellar hypoplasia
The cerebellum is the part of the brain that coordinates movement. The hippocampus and brainstem are often underdeveloped too. People have moderate to severe intellectual disability and delayed development, little or no communication, and very low muscle tone. Most children have seizures that begin in the first months of life.
Signs & symptoms
Symptoms vary from person to person. GARD describes these features:
- Moderate to severe intellectual disability
- Delayed development
- Very low muscle tone (hypotonia)
- Poor balance and coordination (ataxia)
- Seizures
- Nearsightedness or involuntary eye movements
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 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 doesn't describe a cause for this condition yet.
Also known as: lch; lissencephaly co-occurrent with congenital cerebellar hypoplasia
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 Lissencephaly with cerebellar hypoplasia.
Explore research for Lissencephaly with cerebellar hypoplasia
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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