Overview
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is an extremely rare inherited neurological condition that affects the cerebellum, the part of the brain responsible for coordinating movement and balance. This disease is caused by mutations in the GRM1 gene, which provides instructions for making a protein called metabotropic glutamate receptor 1 (mGluR1). This receptor plays a critical role in how brain cells in the cerebellum communicate with each other. When this protein is missing or not working properly, the cerebellum cannot function normally, leading to problems with coordination and movement from a very early age. Children with this condition typically show signs of cerebellar ataxia from infancy or early childhood. This means they have difficulty with balance, walking, and coordinating their movements. They may also experience delays in reaching motor milestones such as sitting, standing, and walking. Some affected individuals may have intellectual disability or cognitive delays, though the severity can vary. Speech difficulties and abnormal eye movements (such as nystagmus) may also be present. There is currently no cure for this condition. Treatment is supportive and focuses on managing symptoms. Physical therapy, occupational therapy, and speech therapy can help improve function and quality of life. The condition is non-progressive or very slowly progressive in most reported cases, meaning it tends to remain relatively stable over time rather than getting dramatically worse. Because this disease is so rare, research is still ongoing to better understand its full range of symptoms and to develop more targeted treatments.
Also known as:
Key symptoms:
Poor balance and unsteady walking (ataxia)Delayed motor milestones such as sitting and walkingDifficulty coordinating movementsInvoluntary eye movements (nystagmus)Slurred or slow speechLow muscle tone in infancyIntellectual disability or learning difficultiesTremor or shaking during purposeful movementsDifficulty with fine motor tasks like writing or buttoning clothesWide-based gait (walking with legs spread apart)
Clinical phenotype terms (17)— 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 congenital cerebellar ataxia due to MGLUR1 deficiency.
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Specialists
View all specialists →No specialists are currently listed for Autosomal recessive congenital cerebellar ataxia due to MGLUR1 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 congenital cerebellar ataxia due to MGLUR1 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 is the expected course of this condition for my child specifically?,How often should we have neurology follow-up appointments?,What therapies (physical, occupational, speech) do you recommend and how often?,Are there any clinical trials or research studies we could participate in?,Should other family members be tested for carrier status?,What school accommodations should we request for our child?,Are there any new or emerging treatments on the horizon for this condition?
Common questions about Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
What is Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency?
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is an extremely rare inherited neurological condition that affects the cerebellum, the part of the brain responsible for coordinating movement and balance. This disease is caused by mutations in the GRM1 gene, which provides instructions for making a protein called metabotropic glutamate receptor 1 (mGluR1). This receptor plays a critical role in how brain cells in the cerebellum communicate with each other. When this protein is missing or not working properly, the cerebellum cannot function normally, leading to problems
How is Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency inherited?
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency typically begin?
Typical onset of Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is infantile. Age of onset can vary across affected individuals.