Living with Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
A rare genetic brain condition with seizures starting in infancy, intellectual disability, and balance and speech problems.
Understanding Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
People have borderline to moderate intellectual disability and cerebellum features such as unclear speech (dysarthria) and poor balance (ataxia). MRI shows shrinkage of the cerebellum and thickening of the brain's outer layer. Seizures are focal, often start with a numb-tongue feeling, and are triggered by fever. Without good medicine control, they can happen weekly and last into adult life.
Signs & symptoms
GARD doesn't list a separate symptom list. Its summary describes:
- Seizures starting in infancy
- Seizures triggered by fever
- Intellectual disability
- Unclear speech (dysarthria)
- Poor balance (ataxia)
- Cerebellar shrinkage on MRI
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 TBC1D24 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 TBC1D24 gene cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: focal epilepsy-intellectual disability-dysarthria-ataxia syndrome; focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome; focal epilepsy, intellectual disability, dysarthria, ataxia 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 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation.
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