Overview
Infantile convulsions and choreoathetosis, also known as ICCA syndrome, is a rare inherited neurological condition that causes two main problems: seizures in babies and young children, and abnormal involuntary movements called choreoathetosis. The seizures usually begin in the first year of life and often improve or stop on their own by the time a child reaches school age. Choreoathetosis refers to a mix of writhing, twisting movements (athetosis) and quick, jerky movements (chorea) that can affect the arms, legs, and face. These movement episodes are often triggered by things like exercise, stress, or sudden movement, and they are not painful. ICCA syndrome is caused by changes (mutations) in the PRRT2 gene. It belongs to a group of conditions linked to this same gene, which also includes a migraine disorder called familial hemiplegic migraine and a movement disorder called paroxysmal kinesigenic dyskinesia (PKD). In fact, ICCA syndrome is sometimes considered a combination of benign infantile epilepsy and PKD occurring in the same family or person. Most people with ICCA syndrome do well over time. The seizures in infancy tend to go away without lasting harm, and the movement episodes in later childhood or adulthood can often be well controlled with low doses of certain anti-seizure medications. Intellectual development is usually normal. Early diagnosis is important so families can get the right support and treatment.
Key symptoms:
Seizures (convulsions) starting in the first year of lifeInvoluntary twisting and writhing movements of the arms, legs, or face (choreoathetosis)Brief episodes of abnormal movement triggered by sudden motion or exerciseSeizures that typically stop on their own before age 3Movement episodes that may last seconds to a few minutesNormal intelligence and development in most casesFamily history of similar seizures or movement problemsEpisodes that are not painfulPossible mild balance or coordination difficulties during movement episodes
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Infantile convulsions and choreoathetosis.
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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 Infantile convulsions and choreoathetosis.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.Is genetic testing for PRRT2 recommended for our child and other family members?,Does my child need anti-seizure medication now, or is it safe to wait and see?,What should I do if my child has a seizure at home or at school?,Will the seizures and movement episodes go away on their own as my child gets older?,Are there any activity restrictions we should follow to reduce movement episode triggers?,What are the chances that siblings or future children will be affected?,Should we see a movement disorder specialist in addition to an epilepsy specialist?
Common questions about Infantile convulsions and choreoathetosis
What is Infantile convulsions and choreoathetosis?
Infantile convulsions and choreoathetosis, also known as ICCA syndrome, is a rare inherited neurological condition that causes two main problems: seizures in babies and young children, and abnormal involuntary movements called choreoathetosis. The seizures usually begin in the first year of life and often improve or stop on their own by the time a child reaches school age. Choreoathetosis refers to a mix of writhing, twisting movements (athetosis) and quick, jerky movements (chorea) that can affect the arms, legs, and face. These movement episodes are often triggered by things like exercise, s
How is Infantile convulsions and choreoathetosis inherited?
Infantile convulsions and choreoathetosis follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Infantile convulsions and choreoathetosis typically begin?
Typical onset of Infantile convulsions and choreoathetosis is infantile. Age of onset can vary across affected individuals.