Overview
Autosomal dominant spastic ataxia (ADSA) is a rare inherited neurological condition that affects both movement coordination and muscle tone. People with this disease experience a combination of two main problems: spasticity (stiffness and tightness in the muscles, especially in the legs) and ataxia (difficulty coordinating movements, leading to unsteady walking and balance problems). This combination occurs because the disease affects both the cerebellum, which controls coordination, and the nerve pathways in the spinal cord that control voluntary movement. Symptoms typically develop gradually and may include difficulty walking, frequent stumbling or falling, slurred speech, and progressive leg stiffness. The severity can vary widely, even among members of the same family. Some people may have mild symptoms that progress slowly, while others may experience more significant disability over time. There is currently no cure for autosomal dominant spastic ataxia. Treatment focuses on managing symptoms and maintaining quality of life. This may include physical therapy to preserve mobility and flexibility, medications to reduce muscle stiffness, occupational therapy to help with daily tasks, and speech therapy if speech is affected. Assistive devices such as canes, walkers, or wheelchairs may become necessary as the disease progresses. Research is ongoing to better understand the underlying genetic causes and to develop more targeted therapies.
Also known as:
Key symptoms:
Stiffness and tightness in the legsUnsteady or wobbly walkingPoor balance and coordinationFrequent tripping or fallingSlurred or slow speechDifficulty with fine motor tasks like writing or buttoning clothesMuscle weakness in the legsInvoluntary eye movementsFatigue during physical activityDifficulty swallowing in some casesBladder urgency or control problemsProgressive difficulty walking over time
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant spastic ataxia.
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View all trials with filters →No actively recruiting trials found for Autosomal dominant spastic ataxia at this time.
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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 Autosomal dominant spastic ataxia.
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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 specific gene mutation is causing my condition, and what does that mean for how the disease may progress?,Should my family members be tested for this condition?,What physical therapy program would be most helpful for maintaining my mobility?,Are there any clinical trials or research studies I could participate in?,What medications might help with my muscle stiffness, and what are the side effects?,How often should I have follow-up appointments, and what should I watch for between visits?,Are there any assistive devices or home modifications that could help me stay independent longer?
Common questions about Autosomal dominant spastic ataxia
What is Autosomal dominant spastic ataxia?
Autosomal dominant spastic ataxia (ADSA) is a rare inherited neurological condition that affects both movement coordination and muscle tone. People with this disease experience a combination of two main problems: spasticity (stiffness and tightness in the muscles, especially in the legs) and ataxia (difficulty coordinating movements, leading to unsteady walking and balance problems). This combination occurs because the disease affects both the cerebellum, which controls coordination, and the nerve pathways in the spinal cord that control voluntary movement. Symptoms typically develop graduall
How is Autosomal dominant spastic ataxia inherited?
Autosomal dominant spastic ataxia follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Autosomal dominant spastic ataxia?
8 specialists and care centers treating Autosomal dominant spastic ataxia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.