Overview
Spinocerebellar ataxia type 32 (SCA32) is an extremely rare inherited neurological disorder that primarily affects the cerebellum, the part of the brain responsible for coordinating movement and balance. It belongs to a large family of spinocerebellar ataxias, which are progressive conditions that cause problems with walking, coordination, and balance. SCA32 was first described in a single large Chinese-American family. People with SCA32 typically develop problems with balance and coordination (ataxia) in adulthood. The condition tends to progress slowly over time. In addition to cerebellar ataxia, affected individuals may experience cognitive difficulties and, notably, some male members of the affected family also had azoospermia (absence of sperm), suggesting the disease may affect fertility in men. The cerebellum shows signs of shrinkage (cerebellar atrophy) on brain imaging. Because SCA32 is so rare, there is currently no specific treatment or cure. Management focuses on supportive care, including physical therapy to help maintain mobility and balance, occupational therapy for daily activities, and speech therapy if needed. The genetic cause has been mapped to a region on chromosome 7 but the exact gene has not yet been identified, which limits the availability of definitive genetic testing.
Key symptoms:
Problems with balance and coordination (ataxia)Unsteady walkingDifficulty with fine motor tasksSlurred speechShrinkage of the cerebellum visible on brain scansCognitive difficultiesMale infertility (absence of sperm)Progressive worsening of movement controlEye movement abnormalities
Clinical phenotype terms (6)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Spinocerebellar ataxia type 32.
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Specialists
View all specialists →No specialists are currently listed for Spinocerebellar ataxia type 32.
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 Spinocerebellar ataxia type 32.
Community
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Caregiver Resources
NORD Caregiver Resources
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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.How can we confirm that this is SCA32 rather than another type of spinocerebellar ataxia?,What other SCA types have been ruled out through genetic testing?,What physical therapy or rehabilitation programs would be most helpful at my current stage?,Are there any clinical trials or research studies I could participate in?,Should my family members consider genetic counseling?,What should I watch for as signs that the disease is progressing?,Are there any medications that might help manage my symptoms?
Common questions about Spinocerebellar ataxia type 32
What is Spinocerebellar ataxia type 32?
Spinocerebellar ataxia type 32 (SCA32) is an extremely rare inherited neurological disorder that primarily affects the cerebellum, the part of the brain responsible for coordinating movement and balance. It belongs to a large family of spinocerebellar ataxias, which are progressive conditions that cause problems with walking, coordination, and balance. SCA32 was first described in a single large Chinese-American family. People with SCA32 typically develop problems with balance and coordination (ataxia) in adulthood. The condition tends to progress slowly over time. In addition to cerebellar a
How is Spinocerebellar ataxia type 32 inherited?
Spinocerebellar ataxia type 32 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Spinocerebellar ataxia type 32 typically begin?
Typical onset of Spinocerebellar ataxia type 32 is adult. Age of onset can vary across affected individuals.