Childhood-onset basal ganglia degeneration syndrome

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ORPHA:497906OMIM:617054G31.8
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Overview

Childhood-onset basal ganglia degeneration syndrome is a rare brain disorder that affects a group of structures deep inside the brain called the basal ganglia. These structures help control movement, balance, and coordination. When they break down over time, it causes a wide range of problems with how a person moves, thinks, and functions in daily life. The condition typically begins in childhood, though the exact age can vary from person to person. The basal ganglia act like a relay station for movement signals in the brain. When the nerve cells in this area slowly degenerate, or die off, signals get disrupted. This leads to symptoms like involuntary movements, muscle stiffness, difficulty walking, and problems with speech. Some children also experience changes in thinking and behavior as the disease progresses. There is currently no cure for this condition. Treatment focuses on managing symptoms and improving quality of life. This may include medications to reduce abnormal movements or muscle stiffness, physical therapy to help with mobility, speech therapy, and occupational therapy. A team of specialists usually works together to support the child and their family. Research into the underlying causes is ongoing, and some cases are linked to specific genetic changes.

Also known as:

Key symptoms:

Involuntary or uncontrolled movements (such as twisting or writhing)Muscle stiffness or rigidityDifficulty walking or problems with balanceSlurred or slow speechSwallowing difficultiesTremors or shakingSlow or reduced movementsIntellectual disability or learning difficultiesBehavioral changes or mood problemsSeizures in some casesMuscle weaknessLoss of previously learned skills

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Childhood-onset basal ganglia degeneration syndrome.

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No actively recruiting trials found for Childhood-onset basal ganglia degeneration syndrome at this time.

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No specialists are currently listed for Childhood-onset basal ganglia degeneration syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

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 Childhood-onset basal ganglia degeneration syndrome.

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Community

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

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.What is the most likely cause of my child's condition, and should we pursue genetic testing?,What type of brain imaging should my child have, and how often should it be repeated?,Which therapies — physical, occupational, or speech — would benefit my child most right now?,Are there any clinical trials or research studies my child might be eligible for?,What symptoms should prompt us to go to the emergency room immediately?,How do we plan for my child's future care needs as the disease progresses?,Are there patient support groups or family networks you can connect us with?

Common questions about Childhood-onset basal ganglia degeneration syndrome

What is Childhood-onset basal ganglia degeneration syndrome?

Childhood-onset basal ganglia degeneration syndrome is a rare brain disorder that affects a group of structures deep inside the brain called the basal ganglia. These structures help control movement, balance, and coordination. When they break down over time, it causes a wide range of problems with how a person moves, thinks, and functions in daily life. The condition typically begins in childhood, though the exact age can vary from person to person. The basal ganglia act like a relay station for movement signals in the brain. When the nerve cells in this area slowly degenerate, or die off, si

At what age does Childhood-onset basal ganglia degeneration syndrome typically begin?

Typical onset of Childhood-onset basal ganglia degeneration syndrome is childhood. Age of onset can vary across affected individuals.