Overview
Orphanet code 496916 refers to a rare genetic hyperkinetic movement disorder — a condition where the brain and nervous system cause the body to make uncontrolled, involuntary movements. 'Hyperkinetic' simply means 'too much movement,' and these movements happen without the person choosing to make them. Depending on the specific disorder, these movements can include jerking (chorea), twisting (dystonia), rapid shaking (tremor), or sudden muscle jerks (myoclonus). This type of disorder is caused by changes (mutations) in one or more genes that affect how the brain controls movement. The basal ganglia — a group of structures deep in the brain that help coordinate smooth, purposeful movement — are often involved. When these circuits are disrupted by a genetic change, the result is the unwanted, excessive movements that define this condition. Symptoms can vary widely depending on the exact genetic cause. Some people experience mild movement difficulties that allow them to live fairly independently, while others may have more significant challenges with daily tasks, speech, or swallowing. Treatment today focuses mainly on managing symptoms, as no cure currently exists for most conditions in this group. Medications, physical therapy, occupational therapy, and sometimes deep brain stimulation can help reduce the severity of movements and improve quality of life.
Key symptoms:
Uncontrolled, involuntary movements of the arms, legs, or faceTwisting or repetitive postures (dystonia)Rapid, dance-like jerking movements (chorea)Sudden muscle jerks (myoclonus)Tremor or shakingDifficulty with balance and coordinationProblems with speech or swallowingMuscle stiffness or rigidityDifficulty with fine motor tasks like writing or buttoning clothesFatigue related to constant involuntary muscle activityCognitive or behavioral changes in some formsDifficulty walking or frequent falls
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
2 availableLISDEXAMFETAMINE DIMESYLATE
indicated for the treatment of Attention Deficit Hyperactivity Disorder (ADHD) in adults and pediatric patients 6 years and older
METHYLPHENIDATE HYDROCHLORIDE
indicated for the treatment of Attention Deficit Hyperactivity Disorder (ADHD), in pediatric patients 6 to 12 years of age
Clinical Trials
View all trials with filters →No actively recruiting trials found for Rare genetic hyperkinetic movement disorder at this time.
New trials open frequently. Follow this disease to get notified.
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 Rare genetic hyperkinetic movement disorder.
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 is the specific genetic cause of my movement disorder, and what does that mean for my long-term health?,Which type of movement am I experiencing — dystonia, chorea, tremor, or something else — and how does that affect my treatment options?,Are there medications or therapies that could reduce my symptoms, and what are the risks and benefits?,Should other family members be tested for the same genetic change?,Is deep brain stimulation or any other procedure an option for me?,What specialists should be part of my care team, and how often should I be seen?,Are there any clinical trials or research studies I might be eligible for?
Common questions about Rare genetic hyperkinetic movement disorder
What is Rare genetic hyperkinetic movement disorder?
Orphanet code 496916 refers to a rare genetic hyperkinetic movement disorder — a condition where the brain and nervous system cause the body to make uncontrolled, involuntary movements. 'Hyperkinetic' simply means 'too much movement,' and these movements happen without the person choosing to make them. Depending on the specific disorder, these movements can include jerking (chorea), twisting (dystonia), rapid shaking (tremor), or sudden muscle jerks (myoclonus). This type of disorder is caused by changes (mutations) in one or more genes that affect how the brain controls movement. The basal g
Which specialists treat Rare genetic hyperkinetic movement disorder?
1 specialists and care centers treating Rare genetic hyperkinetic movement disorder are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Rare genetic hyperkinetic movement disorder?
1 patient support program are currently tracked on UniteRare for Rare genetic hyperkinetic movement disorder. See the treatments and support programs sections for copay assistance, eligibility, and contact details.