Overview
Spinocerebellar ataxia type 40 (SCA40) is a rare inherited brain condition that affects movement and coordination. It belongs to a group of diseases called spinocerebellar ataxias, which cause damage to the cerebellum — the part of the brain that controls balance and smooth movement — as well as the spinal cord pathways connected to it. In SCA40, the main problem is that the cerebellum gradually stops working as well as it should. This leads to unsteady walking, poor coordination, and trouble with fine movements like writing or buttoning a shirt. Some people also develop problems with speech, making it sound slurred or slow. The condition tends to get worse over time, though the speed of progression can vary from person to person. There is currently no cure for SCA40. Treatment focuses on managing symptoms and maintaining quality of life for as long as possible. Physical therapy, occupational therapy, and speech therapy are the main tools used to help people stay as independent as possible. Researchers are actively studying the disease to find better treatments in the future.
Also known as:
Key symptoms:
Unsteady walking and balance problems (ataxia)Poor coordination of arms and handsSlurred or slow speechDifficulty with fine motor tasks like writing or using utensilsTremor or shakiness with movementAbnormal eye movementsMuscle stiffness or spasticityFatigue with physical activityDifficulty swallowing in some cases
Clinical phenotype terms (14)— 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 40.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Spinocerebellar ataxia type 40 at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Spinocerebellar ataxia type 40.
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 40.
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 stage is my condition at, and what changes should I expect over the next few years?,Should I have genetic testing, and should my family members be tested too?,What therapies do you recommend to help me stay mobile and independent for as long as possible?,Are there any clinical trials for SCA40 or related spinocerebellar ataxias that I might qualify for?,When should I start thinking about mobility aids or home modifications?,Are there any medications that might help with my specific symptoms like stiffness or tremor?,What specialists should be part of my care team, and how often should I be seen?
Common questions about Spinocerebellar ataxia type 40
What is Spinocerebellar ataxia type 40?
Spinocerebellar ataxia type 40 (SCA40) is a rare inherited brain condition that affects movement and coordination. It belongs to a group of diseases called spinocerebellar ataxias, which cause damage to the cerebellum — the part of the brain that controls balance and smooth movement — as well as the spinal cord pathways connected to it. In SCA40, the main problem is that the cerebellum gradually stops working as well as it should. This leads to unsteady walking, poor coordination, and trouble with fine movements like writing or buttoning a shirt. Some people also develop problems with speech,
How is Spinocerebellar ataxia type 40 inherited?
Spinocerebellar ataxia type 40 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Spinocerebellar ataxia type 40 typically begin?
Typical onset of Spinocerebellar ataxia type 40 is adult. Age of onset can vary across affected individuals.