Overview
Spinocerebellar ataxia type 43 (SCA43) is a very rare inherited neurological disease that affects the cerebellum — the part of the brain that controls balance and coordination. It belongs to a large family of conditions called spinocerebellar ataxias (SCAs), which are numbered based on the gene involved. SCA43 is caused by changes (mutations) in the MME gene, which provides instructions for making an enzyme called neprilysin. When this enzyme does not work properly, it is thought to affect how nerve cells in the cerebellum function and survive over time. The main symptom is progressive ataxia, meaning that balance and coordination gradually get worse over time. People with SCA43 may notice unsteady walking, difficulty with fine hand movements, slurred speech, and problems with eye movements. Some individuals also experience sensory changes in their limbs, such as numbness or tingling, which points to involvement of the peripheral nerves as well as the cerebellum. There is currently no cure for SCA43, and treatment focuses on managing symptoms and maintaining quality of life. Physical therapy, occupational therapy, and speech therapy are the main tools used to help people stay as independent as possible for as long as possible. Because SCA43 is extremely rare, research is still in early stages, and most knowledge comes from a small number of reported families.
Also known as:
Key symptoms:
Unsteady walking and balance problems (ataxia)Slurred or slow speech (dysarthria)Difficulty with fine hand movements and coordinationAbnormal eye movements or difficulty controlling eye movementNumbness or tingling in the hands and feetMuscle weakness in the limbsReduced reflexes in the legsGradual worsening of symptoms over yearsDifficulty swallowing in some casesFatigue related to increased effort needed for movement
Clinical phenotype terms (22)— 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 43.
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Specialists
View all specialists →No specialists are currently listed for Spinocerebellar ataxia type 43.
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 43.
Community
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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.How certain is my diagnosis of SCA43, and should other family members be tested?,How quickly do you expect my symptoms to progress, based on what you know about this condition?,What therapies do you recommend right now to help me maintain my balance and coordination?,Are there any clinical trials or research studies I might be eligible to join?,What signs should prompt me to come back sooner or go to the emergency room?,Should I see a genetic counselor to understand the risk for my children?,Are there any patient registries or support networks for people with spinocerebellar ataxia that you recommend?
Common questions about Spinocerebellar ataxia type 43
What is Spinocerebellar ataxia type 43?
Spinocerebellar ataxia type 43 (SCA43) is a very rare inherited neurological disease that affects the cerebellum — the part of the brain that controls balance and coordination. It belongs to a large family of conditions called spinocerebellar ataxias (SCAs), which are numbered based on the gene involved. SCA43 is caused by changes (mutations) in the MME gene, which provides instructions for making an enzyme called neprilysin. When this enzyme does not work properly, it is thought to affect how nerve cells in the cerebellum function and survive over time. The main symptom is progressive ataxia
How is Spinocerebellar ataxia type 43 inherited?
Spinocerebellar ataxia type 43 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Spinocerebellar ataxia type 43 typically begin?
Typical onset of Spinocerebellar ataxia type 43 is adult. Age of onset can vary across affected individuals.