Overview
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia is a very rare inherited neurological condition that affects the cerebellum, the part of the brain responsible for coordinating movement and balance. Children with this condition typically begin showing symptoms during childhood, usually with difficulties in walking and balance (ataxia) that worsen slowly over time. The disease 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 condition. Key symptoms include progressive unsteadiness when walking, poor coordination of hand and limb movements, slurred speech, and sometimes eye movement abnormalities. Because the progression is slow, many affected individuals retain some ability to walk for years or even decades, though they may eventually need assistive devices. Some patients may also experience mild sensory nerve involvement. There is currently no cure for this condition. Treatment focuses on managing symptoms and maintaining quality of life. Physical therapy, occupational therapy, and speech therapy are the main approaches used to help patients stay as independent as possible. Research into potential disease-modifying treatments is ongoing but limited due to the rarity of the condition.
Also known as:
Key symptoms:
Unsteady walking and balance problemsPoor coordination of arm and leg movementsSlurred or slow speechAbnormal eye movementsDifficulty with fine motor tasks like writingMuscle stiffness or spasticityTremor during purposeful movementsGradual worsening of gait over yearsReduced sensation in hands or feetFatigue during physical activitiesDifficulty swallowing in later stages
Clinical phenotype terms (21)— 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 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia.
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Rare Disease Specialist
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 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia.
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Caregiver Resources
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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 my child's condition, and has it been fully identified?,How quickly is the disease likely to progress in my child's case?,What therapies are most important right now to maintain my child's function?,Are there any clinical trials or research studies my child could participate in?,What school accommodations should we request to support my child?,When should we consider assistive devices like a walker or wheelchair?,Should other family members or future children be tested for this condition?
Common questions about Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
What is Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia?
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia is a very rare inherited neurological condition that affects the cerebellum, the part of the brain responsible for coordinating movement and balance. Children with this condition typically begin showing symptoms during childhood, usually with difficulties in walking and balance (ataxia) that worsen slowly over time. The disease 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
How is Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia inherited?
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia typically begin?
Typical onset of Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia is childhood. Age of onset can vary across affected individuals.
Which specialists treat Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia?
1 specialists and care centers treating Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.