Overview
Autosomal recessive cerebellar ataxia with pyramidal signs, nystagmus, and oculomotor apraxia syndrome is a very rare inherited neurological condition that affects the brain's ability to coordinate movement. The disease primarily impacts the cerebellum, which is the part of the brain responsible for balance and smooth, coordinated movements. People with this condition develop cerebellar ataxia, meaning they have difficulty with balance and walking that tends to get worse over time. They also experience pyramidal signs, which are problems with the nerve pathways that control voluntary movement, leading to stiffness and abnormal reflexes. Nystagmus (involuntary, repetitive eye movements) and oculomotor apraxia (difficulty moving the eyes voluntarily to look at specific targets) are also hallmark features of this syndrome. Symptoms typically begin in childhood and progressively worsen. Affected individuals may have trouble walking, speaking clearly, and performing fine motor tasks like writing. The condition follows an autosomal recessive inheritance pattern, meaning a child must inherit a faulty gene copy from each parent to develop the disease. Because this is an extremely rare condition, treatment options are currently limited to managing symptoms and providing supportive care. Physical therapy, occupational therapy, and speech therapy can help maintain function and quality of life. There are no approved disease-modifying treatments at this time, and research into the underlying genetic causes is ongoing.
Key symptoms:
Problems with balance and coordination (ataxia)Unsteady walking that worsens over timeInvoluntary eye movements (nystagmus)Difficulty moving the eyes to look at things on purposeMuscle stiffness or spasticityOveractive reflexesSlurred or unclear speechDifficulty with fine motor tasks like writing or buttoning clothesTremor or shaking during movementProgressive difficulty with walkingPoor hand-eye coordination
Clinical phenotype terms (32)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome.
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Specialists
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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 recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia 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.What genetic testing has been done, and are there additional tests that could help identify the exact cause?,How quickly is this condition likely to progress in my case or my child's case?,What therapies do you recommend to help maintain mobility and function?,Are there any clinical trials or research studies we could participate in?,What assistive devices or home modifications should we consider?,How often should we schedule follow-up appointments and with which specialists?,Are there any medications that could help with specific symptoms like stiffness or eye movement problems?
Common questions about Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
What is Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome?
Autosomal recessive cerebellar ataxia with pyramidal signs, nystagmus, and oculomotor apraxia syndrome is a very rare inherited neurological condition that affects the brain's ability to coordinate movement. The disease primarily impacts the cerebellum, which is the part of the brain responsible for balance and smooth, coordinated movements. People with this condition develop cerebellar ataxia, meaning they have difficulty with balance and walking that tends to get worse over time. They also experience pyramidal signs, which are problems with the nerve pathways that control voluntary movement,
How is Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome inherited?
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome typically begin?
Typical onset of Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is childhood. Age of onset can vary across affected individuals.