Non-progressive cerebellar ataxia with intellectual disability

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ORPHA:314647OMIM:614756G11.0
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8Treatment centers

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Overview

Non-progressive cerebellar ataxia with intellectual disability is a rare genetic condition that affects the brain, specifically the cerebellum — the part of the brain responsible for coordinating movement and balance. Unlike many other forms of ataxia, this condition does not get worse over time, which is why it is called 'non-progressive.' People with this condition typically show signs of unsteady walking (ataxia), poor coordination, and some degree of intellectual disability from early childhood. The cerebellar ataxia causes difficulties with balance, walking, fine motor skills (like writing or buttoning clothes), and sometimes speech. The intellectual disability can range from mild to moderate, meaning that learning and daily problem-solving may take more time and support. Some individuals may also have delayed speech development, low muscle tone, or subtle differences in eye movements. There is currently no cure for this condition. Treatment focuses on supportive therapies such as physical therapy to improve balance and coordination, occupational therapy to help with daily tasks, and speech therapy if needed. Special education services can help children reach their full learning potential. Because the condition does not worsen, many individuals can make steady progress with the right support and therapies throughout their lives. This condition may also be referred to as congenital non-progressive cerebellar ataxia with intellectual disability.

Key symptoms:

Unsteady walking and poor balanceDifficulty with coordinationIntellectual disability (mild to moderate)Delayed motor milestones like sitting and walkingSpeech and language delaysLow muscle tone (feeling floppy as a baby)Tremor or shaking during purposeful movementsDifficulty with fine motor tasks like writing or using utensilsJerky or uncoordinated eye movementsSlurred or slow speechLearning difficulties in schoolWide-based or unsteady gait

Clinical phenotype terms (39)— hover any for plain English
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Infantile

Begins in infancy, roughly 1 month to 2 years old

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Non-progressive cerebellar ataxia with intellectual disability.

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No actively recruiting trials found for Non-progressive cerebellar ataxia with intellectual disability at this time.

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No specialists are currently listed for Non-progressive cerebellar ataxia with intellectual disability.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Non-progressive cerebellar ataxia with intellectual disability.

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Community

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Caregiver Resources

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Mental Health Support

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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 genetic testing should be done to identify the cause in our case?,How can we tell if this condition is truly non-progressive versus a slowly progressive form of ataxia?,What therapies do you recommend, and how often should they occur?,What level of independence can we expect for our child as they grow up?,Are there any clinical trials or research studies we should know about?,What educational supports should we request from our school district?,Should other family members be tested for the genetic change?

Common questions about Non-progressive cerebellar ataxia with intellectual disability

What is Non-progressive cerebellar ataxia with intellectual disability?

Non-progressive cerebellar ataxia with intellectual disability is a rare genetic condition that affects the brain, specifically the cerebellum — the part of the brain responsible for coordinating movement and balance. Unlike many other forms of ataxia, this condition does not get worse over time, which is why it is called 'non-progressive.' People with this condition typically show signs of unsteady walking (ataxia), poor coordination, and some degree of intellectual disability from early childhood. The cerebellar ataxia causes difficulties with balance, walking, fine motor skills (like writi

At what age does Non-progressive cerebellar ataxia with intellectual disability typically begin?

Typical onset of Non-progressive cerebellar ataxia with intellectual disability is infantile. Age of onset can vary across affected individuals.