Overview
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency (also known as DHODH-related disorder or dihydroorotate dehydrogenase deficiency) is an extremely rare inherited condition that affects the brain and nervous system. TUD stands for T-cell ubiquitin ligand deficiency, though the condition is more precisely linked to problems in the pyrimidine biosynthesis pathway. This disease is caused by mutations that disrupt normal brain development and function, leading to a combination of cerebellar ataxia (problems with balance and coordination due to the cerebellum not working properly), epilepsy (recurrent seizures), and intellectual disability. Children with this condition typically show developmental delays early in life, including difficulty with motor skills like sitting and walking, as well as speech and learning challenges. Seizures may begin in infancy or early childhood and can vary in type and severity. The cerebellar ataxia causes unsteady walking, poor coordination, and sometimes tremors. Because this is an extremely rare condition, treatment options are currently limited to managing symptoms. Anti-seizure medications are used to control epilepsy, and physical therapy, occupational therapy, and speech therapy help support development. There is no cure at this time, and research into this condition is still in its early stages.
Also known as:
Key symptoms:
Problems with balance and coordination (ataxia)Unsteady or wobbly walkingSeizures (epilepsy)Intellectual disabilityDelayed speech and language developmentDelayed motor milestones like sitting and walkingPoor fine motor skillsTremors or involuntary movementsMuscle tone abnormalities (too stiff or too floppy)Learning difficultiesDifficulty with concentration and attentionBehavioral challenges
Clinical phenotype terms (6)— hover any for plain English
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 due to TUD 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 TUD 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 TUD deficiency.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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 specific genetic mutation does my child have, and what does it mean for their condition?,What seizure medications are best suited for this condition, and what side effects should I watch for?,How often should we have follow-up brain imaging and EEG testing?,What therapies (physical, occupational, speech) do you recommend, and how often?,Are there any clinical trials or experimental treatments available for this condition?,What emergency plan should we have in place for prolonged seizures?,Should other family members be tested for carrier status?
Common questions about Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
What is Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency?
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency (also known as DHODH-related disorder or dihydroorotate dehydrogenase deficiency) is an extremely rare inherited condition that affects the brain and nervous system. TUD stands for T-cell ubiquitin ligand deficiency, though the condition is more precisely linked to problems in the pyrimidine biosynthesis pathway. This disease is caused by mutations that disrupt normal brain development and function, leading to a combination of cerebellar ataxia (problems with balance and coordination due to th
How is Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency inherited?
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD 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 TUD deficiency typically begin?
Typical onset of Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency is infantile. Age of onset can vary across affected individuals.