Overview
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency is an extremely rare genetic condition that primarily affects the brain, specifically the cerebellum — the part of the brain responsible for coordinating movement and balance. People with this condition have changes (mutations) in both copies of the CWF19L1 gene, which is believed to play a role in a cellular process called RNA splicing, important for how cells read genetic instructions. The disease typically begins in early childhood and is characterized by progressive difficulty with coordination and balance (cerebellar ataxia), intellectual disability, and speech problems. Children may show delayed motor milestones such as walking later than expected, and their movements may appear unsteady or clumsy. Brain imaging often reveals that the cerebellum is smaller than normal, a finding called cerebellar atrophy or cerebellar hypoplasia. There is currently no cure or disease-specific treatment for this condition. Management focuses on supportive care, including physical therapy to help with movement and balance, speech therapy to improve communication, and educational support for intellectual challenges. Occupational therapy may also help individuals develop skills for daily living. Because so few cases have been described in the medical literature, much remains to be learned about the full range of symptoms and the long-term outlook for affected individuals.
Also known as:
Key symptoms:
Poor balance and unsteady walking (ataxia)Intellectual disabilityDelayed speech and language developmentDelayed motor milestones such as sitting and walkingSlurred or unclear speechInvoluntary eye movements (nystagmus)Reduced muscle tone (hypotonia)Difficulty with fine motor tasks like writing or buttoning clothesSeizures in some individualsSmall cerebellum seen on brain imagingLearning difficultiesTremor or shaky movements
Clinical phenotype terms (24)— 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 due to CWF19L1 deficiency.
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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 due to CWF19L1 deficiency.
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Caregiver Resources
NORD Caregiver Resources
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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 severe is the cerebellar atrophy on my child's brain MRI, and what does that mean for their future?,What therapies (physical, occupational, speech) should we start right away?,Is there a risk of seizures, and what should I watch for?,Are there any clinical trials or research studies we could participate in?,What kind of educational support or accommodations should we request at school?,Should other family members be tested to see if they are carriers?,How often should we schedule follow-up appointments and repeat brain imaging?
Common questions about Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
What is Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency?
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency is an extremely rare genetic condition that primarily affects the brain, specifically the cerebellum — the part of the brain responsible for coordinating movement and balance. People with this condition have changes (mutations) in both copies of the CWF19L1 gene, which is believed to play a role in a cellular process called RNA splicing, important for how cells read genetic instructions. The disease typically begins in early childhood and is characterized by progressive difficulty with coordination and balance (cerebellar ataxia)
How is Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency inherited?
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency 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 due to CWF19L1 deficiency typically begin?
Typical onset of Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency is childhood. Age of onset can vary across affected individuals.