Overview
Autosomal recessive cerebellar ataxia with late-onset spasticity is a very rare inherited neurological condition that primarily affects the cerebellum, the part of the brain responsible for coordinating movement and balance. People with this condition typically develop problems with coordination (ataxia) that begin in childhood or adolescence. As the disease progresses, patients also develop stiffness and tightness in the legs (spasticity), which usually appears later in the course of the disease. The combination of ataxia and spasticity can make walking increasingly difficult over time. The condition is caused by changes (mutations) in specific genes that are inherited in an autosomal recessive pattern, meaning a child must receive a faulty copy of the gene from both parents to develop the disease. Early symptoms often include unsteady walking, clumsiness, and difficulty with fine motor tasks like writing. Over time, speech may become slurred, and leg stiffness can worsen. There is currently no cure for this condition. Treatment focuses on managing symptoms and maintaining quality of life. Physical therapy, occupational therapy, and medications to reduce spasticity are the main approaches used. Because this is an extremely rare disease, research is still ongoing to better understand its full course and to develop more targeted treatments.
Key symptoms:
Unsteady walking and poor balance (ataxia)Leg stiffness and tightness (spasticity) that develops laterDifficulty with coordination and fine movementsSlurred or slow speechAbnormal eye movementsDifficulty with hand coordinationProgressive difficulty walkingMuscle weakness in the legsIncreased reflexes in the legsFoot deformities such as high archesFatigue during physical activity
Clinical phenotype terms (26)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive cerebellar ataxia with late-onset spasticity.
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Specialists
View all specialists →No specialists are currently listed for Autosomal recessive cerebellar ataxia with late-onset spasticity.
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 with late-onset spasticity.
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 specific genetic mutation is causing this condition, and does it help predict how the disease will progress?,What therapies are recommended right now to manage my symptoms?,How often should I have follow-up appointments and what should be monitored?,Are there any clinical trials or research studies I might be eligible for?,What can I do at home to maintain my mobility and independence for as long as possible?,Should my family members be tested to see if they are carriers?,What resources or support groups are available for people with this condition?
Common questions about Autosomal recessive cerebellar ataxia with late-onset spasticity
What is Autosomal recessive cerebellar ataxia with late-onset spasticity?
Autosomal recessive cerebellar ataxia with late-onset spasticity is a very rare inherited neurological condition that primarily affects the cerebellum, the part of the brain responsible for coordinating movement and balance. People with this condition typically develop problems with coordination (ataxia) that begin in childhood or adolescence. As the disease progresses, patients also develop stiffness and tightness in the legs (spasticity), which usually appears later in the course of the disease. The combination of ataxia and spasticity can make walking increasingly difficult over time. The
How is Autosomal recessive cerebellar ataxia with late-onset spasticity inherited?
Autosomal recessive cerebellar ataxia with late-onset spasticity follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.