Overview
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome is an extremely rare genetic condition that affects the brain and nervous system. People with this condition experience a combination of three main problems: cerebellar ataxia (difficulty with balance and coordination caused by problems in the cerebellum, the part of the brain that controls movement), epilepsy (recurrent seizures), and intellectual disability (difficulty with learning, reasoning, and problem-solving). The condition is present from early life, and symptoms typically become apparent during infancy or childhood. Children may show delayed developmental milestones, such as sitting, walking, and talking later than expected. The unsteady movements (ataxia) tend to affect walking and fine motor skills like writing or buttoning clothes. Seizures can vary in type and severity. Because this is such a rare condition, treatment is mainly supportive and focused on managing individual symptoms. Anti-seizure medications are used to control epilepsy, physical therapy helps with coordination and mobility, and special education services support learning needs. There is currently no cure or disease-modifying treatment available.
Key symptoms:
Poor balance and unsteady walkingDifficulty with coordination of movementsSeizures or epilepsyIntellectual disabilityDelayed speech and language developmentDelayed motor milestones like sitting and walkingDifficulty with fine motor tasks like writingTremor or shaky movementsMuscle weakness or low muscle toneLearning difficultiesBehavioral challengesSlurred or slow speech
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What type of seizures does my child have, and what is the best medication to control them?,Are there genetic tests that can confirm the exact cause of this condition?,What therapies (physical, occupational, speech) do you recommend, and how often?,What should I do if my child has a prolonged seizure?,How will this condition affect my child's learning, and what educational supports are available?,Is there a risk that future children could also have this condition?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
What is Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome?
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome is an extremely rare genetic condition that affects the brain and nervous system. People with this condition experience a combination of three main problems: cerebellar ataxia (difficulty with balance and coordination caused by problems in the cerebellum, the part of the brain that controls movement), epilepsy (recurrent seizures), and intellectual disability (difficulty with learning, reasoning, and problem-solving). The condition is present from early life, and symptoms typically become apparent during infancy or
How is Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome inherited?
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome typically begin?
Typical onset of Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome is infantile. Age of onset can vary across affected individuals.