Overview
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency is an extremely rare genetic condition that affects the brain and nervous system. It is caused by changes (mutations) in the RUBCN gene, which plays an important role in a cellular cleanup process called autophagy. When this gene does not work properly, brain cells cannot function normally, leading to a combination of neurological problems. The main features of this condition include cerebellar ataxia (difficulty with balance and coordination due to problems in the cerebellum, the part of the brain that controls movement), epilepsy (recurrent seizures), and intellectual disability that can range from mild to severe. Children with this condition typically show delays in reaching developmental milestones such as walking and talking. Seizures may begin in childhood and can be difficult to control with standard medications. There is currently no cure for this condition. Treatment focuses on managing symptoms, including anti-seizure medications to control epilepsy, physical therapy to help with coordination and movement, speech therapy, and educational support for intellectual disability. Because this disease is so rare, research is still ongoing to better understand its full range of symptoms and to develop more targeted treatments.
Key symptoms:
Poor balance and coordination (ataxia)Seizures (epilepsy)Intellectual disabilityDelayed speech developmentDelayed motor milestones such as walkingUnsteady walking (gait problems)Difficulty with fine motor tasks like writing or buttoning clothesLearning difficultiesTremor or shaky movementsMuscle tone abnormalitiesBehavioral challengesSlurred or slow speech
Clinical phenotype terms (11)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency.
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Specialists
View all specialists →No specialists are currently listed for Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency.
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 due to RUBCN deficiency.
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 any signs of cerebellar changes on brain MRI that we should monitor over time?,What therapies (physical, occupational, speech) would benefit my child the most right now?,Should other family members be tested to see if they are carriers of the RUBCN gene mutation?,Are there any clinical trials or research studies we could participate in?,What educational supports and accommodations should we request for school?,What is the long-term outlook for my child's mobility and independence?
Common questions about Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
What is Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency?
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency is an extremely rare genetic condition that affects the brain and nervous system. It is caused by changes (mutations) in the RUBCN gene, which plays an important role in a cellular cleanup process called autophagy. When this gene does not work properly, brain cells cannot function normally, leading to a combination of neurological problems. The main features of this condition include cerebellar ataxia (difficulty with balance and coordination due to problems in the cerebellum, the part of t
How is Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency inherited?
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency 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 due to RUBCN deficiency typically begin?
Typical onset of Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency is childhood. Age of onset can vary across affected individuals.