Overview
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome is an extremely rare genetic neurological condition that affects brain development and movement control. People with this syndrome typically have intellectual disability, which means they may have difficulty with learning, reasoning, and problem-solving compared to others their age. The term 'hyperkinetic movements' refers to involuntary, excessive movements that the person cannot control, such as jerky or writhing motions of the limbs or body. 'Truncal ataxia' means there is poor coordination and balance of the trunk (the core of the body), which can make sitting upright, standing, and walking difficult and unsteady. This condition usually becomes apparent in early childhood when developmental milestones such as sitting, walking, and speaking are delayed. The severity of symptoms can vary from person to person. Some individuals may also experience seizures, speech difficulties, and behavioral challenges. Currently, there is no cure for this syndrome. Treatment focuses on managing symptoms and improving quality of life. This may include physical therapy to help with movement and balance, occupational therapy to support daily living skills, speech therapy for communication difficulties, and medications to help control involuntary movements or seizures. A team of specialists typically works together to provide the best care for affected individuals.
Key symptoms:
Intellectual disability or learning difficultiesInvoluntary jerky or excessive body movementsPoor balance and coordination of the trunkDelayed motor milestones such as sitting and walkingDelayed speech and language developmentUnsteady or wobbly gaitDifficulty with fine motor tasks like writing or buttoning clothesSeizures in some individualsBehavioral difficultiesLow muscle tone in early lifeDifficulty with attention and concentration
Clinical phenotype terms (20)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Intellectual disability-hyperkinetic movement-truncal ataxia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Intellectual disability-hyperkinetic movement-truncal ataxia 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 Intellectual disability-hyperkinetic movement-truncal ataxia 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 specific genetic testing should be done to confirm the diagnosis?,How severe is my child's condition, and what can we expect over time?,What therapies are most important to start right away?,Are there any medications that could help control the involuntary movements?,Should we be concerned about seizures, and how would we recognize them?,What educational supports and accommodations should we request at school?,Are there any clinical trials or research studies we could participate in?
Common questions about Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
What is Intellectual disability-hyperkinetic movement-truncal ataxia syndrome?
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome is an extremely rare genetic neurological condition that affects brain development and movement control. People with this syndrome typically have intellectual disability, which means they may have difficulty with learning, reasoning, and problem-solving compared to others their age. The term 'hyperkinetic movements' refers to involuntary, excessive movements that the person cannot control, such as jerky or writhing motions of the limbs or body. 'Truncal ataxia' means there is poor coordination and balance of the trunk (the c
How is Intellectual disability-hyperkinetic movement-truncal ataxia syndrome inherited?
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Intellectual disability-hyperkinetic movement-truncal ataxia syndrome typically begin?
Typical onset of Intellectual disability-hyperkinetic movement-truncal ataxia syndrome is infantile. Age of onset can vary across affected individuals.