Overview
Spastic ataxia-corneal dystrophy syndrome is an extremely rare genetic condition that affects both the nervous system and the eyes. The disease combines two main problems: spastic ataxia, which causes stiffness (spasticity) and poor coordination of movements (ataxia), and corneal dystrophy, which involves clouding or abnormal changes in the clear front surface of the eye (the cornea). People with this condition typically experience progressive difficulty with walking and balance due to the combination of muscle stiffness and uncoordinated movements. Over time, vision may also become impaired as the cornea becomes increasingly cloudy or irregular. Because this syndrome is so rare, it has been described in only a very small number of families in the medical literature. The neurological symptoms tend to worsen gradually over time, and the corneal changes can lead to significant visual problems. There is currently no cure for this condition. Treatment focuses on managing symptoms, including physical therapy to help with movement difficulties, medications to reduce muscle stiffness, and ophthalmological interventions such as corneal transplantation if vision loss becomes severe. A team of specialists working together is important for providing the best possible care.
Also known as:
Key symptoms:
Muscle stiffness in the legs (spasticity)Poor coordination and unsteady walking (ataxia)Clouding of the front surface of the eye (corneal dystrophy)Progressive difficulty with balanceVision problems or blurred visionDifficulty walkingIncreased muscle reflexesLeg weaknessSlurred or slow speechDifficulty with fine motor tasks like writing or buttoning clothes
Clinical phenotype terms (12)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Spastic ataxia-corneal dystrophy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Spastic ataxia-corneal dystrophy syndrome.
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 Spastic ataxia-corneal dystrophy syndrome.
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.How quickly is this condition likely to progress in my case?,What genetic testing should I and my family members consider?,What physical therapy program would be most helpful for maintaining my mobility?,When should we consider corneal transplantation for my eye problems?,Are there any clinical trials or research studies I could participate in?,What medications can help with my muscle stiffness, and what are the side effects?,What resources are available to help me adapt my home and daily routine?
Common questions about Spastic ataxia-corneal dystrophy syndrome
What is Spastic ataxia-corneal dystrophy syndrome?
Spastic ataxia-corneal dystrophy syndrome is an extremely rare genetic condition that affects both the nervous system and the eyes. The disease combines two main problems: spastic ataxia, which causes stiffness (spasticity) and poor coordination of movements (ataxia), and corneal dystrophy, which involves clouding or abnormal changes in the clear front surface of the eye (the cornea). People with this condition typically experience progressive difficulty with walking and balance due to the combination of muscle stiffness and uncoordinated movements. Over time, vision may also become impaired a
How is Spastic ataxia-corneal dystrophy syndrome inherited?
Spastic ataxia-corneal dystrophy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.