Overview
Spinocerebellar ataxia type 38 (SCA38) is a rare inherited brain disorder that affects coordination and balance. It belongs to a group of conditions called spinocerebellar ataxias, which cause the cerebellum — the part of the brain that controls movement — to gradually stop working properly. SCA38 is caused by changes (mutations) in a gene called ELOVL5, which plays a role in making certain fatty acids that the brain and nervous system need to function. The main symptom is progressive ataxia, meaning that over time, walking, balance, and coordinated movements become increasingly difficult. People with SCA38 may also notice problems with eye movements, reduced sense of smell, and sometimes mild changes in thinking or memory. Symptoms usually begin in adulthood, often between the ages of 30 and 50, and slowly worsen over the years. There is currently no cure for SCA38, and no treatment has been approved specifically for this condition. Care focuses on managing symptoms, maintaining mobility as long as possible through physical therapy, and supporting quality of life. Because SCA38 is so rare, research is still in early stages, but growing awareness of the genetic cause offers hope for future targeted therapies.
Also known as:
Key symptoms:
Unsteady walking and poor balance (ataxia)Difficulty coordinating arm and hand movementsAbnormal or jerky eye movements (nystagmus)Slurred or slow speech (dysarthria)Reduced or lost sense of smell (anosmia or hyposmia)Mild memory or thinking difficultiesMuscle weakness in the legs over timeFatigue with physical activityDifficulty with fine motor tasks like writing or buttoning clothesDizziness or a feeling of unsteadiness
Clinical phenotype terms (11)— 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 38.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Spinocerebellar ataxia type 38 at this time.
New trials open frequently. Follow this disease to get notified.
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 38.
Community
No community posts yet. Be the first to share your experience with Spinocerebellar ataxia type 38.
Start the conversation →Latest news about Spinocerebellar ataxia type 38
No recent news articles for Spinocerebellar ataxia type 38.
Follow this condition to be notified when news becomes available.
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 genetic testing do you recommend to confirm my diagnosis, and how long will results take?,How quickly do you expect my symptoms to progress, based on what you know about SCA38?,What therapies or rehabilitation programs do you recommend to help me stay mobile and independent for as long as possible?,Should my children or siblings be tested for the ELOVL5 gene mutation?,Are there any clinical trials for SCA38 or related ataxias that I might be eligible for?,What signs should prompt me to seek urgent medical attention?,Are there any patient registries or support groups for people with SCA38 or spinocerebellar ataxias that you would recommend?
Common questions about Spinocerebellar ataxia type 38
What is Spinocerebellar ataxia type 38?
Spinocerebellar ataxia type 38 (SCA38) is a rare inherited brain disorder that affects coordination and balance. It belongs to a group of conditions called spinocerebellar ataxias, which cause the cerebellum — the part of the brain that controls movement — to gradually stop working properly. SCA38 is caused by changes (mutations) in a gene called ELOVL5, which plays a role in making certain fatty acids that the brain and nervous system need to function. The main symptom is progressive ataxia, meaning that over time, walking, balance, and coordinated movements become increasingly difficult. Pe
How is Spinocerebellar ataxia type 38 inherited?
Spinocerebellar ataxia type 38 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Spinocerebellar ataxia type 38 typically begin?
Typical onset of Spinocerebellar ataxia type 38 is adult. Age of onset can vary across affected individuals.
Which specialists treat Spinocerebellar ataxia type 38?
1 specialists and care centers treating Spinocerebellar ataxia type 38 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.