Overview
Familial infantile myoclonic epilepsy (FIME) is a very rare genetic seizure disorder that begins in infancy. Babies with this condition develop myoclonic seizures, which are brief, sudden jerking movements of the muscles. These seizures typically start within the first year or two of life. The condition runs in families, meaning it is passed down from parents to children through their genes. The myoclonic jerks can affect different parts of the body, including the arms, legs, or the whole body. They may happen many times a day and can be triggered by things like being startled, falling asleep, or waking up. Some children with this condition may also develop other types of seizures over time. Depending on the severity, the seizures can interfere with normal development, including motor skills and learning. Treatment mainly focuses on controlling seizures with anti-seizure medications (also called antiepileptic drugs). The response to medication can vary from child to child. Some children respond well to treatment and have good seizure control, while others may be harder to treat. Early diagnosis and treatment are important to give children the best chance at normal development. Because this is a rare condition, management is best handled by a team of specialists experienced in pediatric epilepsy.
Also known as:
Key symptoms:
Sudden brief muscle jerks (myoclonic seizures)Jerking of the arms or legsWhole-body jerking episodesSeizures triggered by being startledSeizures occurring when falling asleep or waking upPossible developmental delaysDifficulty with motor skillsPossible learning difficultiesEpisodes of staring or unresponsivenessFrequent falls due to sudden muscle jerks
Clinical phenotype terms (25)— hover any for plain English
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 Familial infantile myoclonic epilepsy.
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Specialists
View all specialists →No specialists are currently listed for Familial infantile myoclonic epilepsy.
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 Familial infantile myoclonic epilepsy.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What type of seizures does my child have, and how does this specific diagnosis differ from other forms of epilepsy?,Which anti-seizure medication do you recommend, and what are the possible side effects?,Should my child have genetic testing, and what will the results tell us?,What should I do if my child has a prolonged seizure or a cluster of seizures?,Will this condition affect my child's development, and what therapies might help?,Is there a risk that my other children or future children could have this condition?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Familial infantile myoclonic epilepsy
What is Familial infantile myoclonic epilepsy?
Familial infantile myoclonic epilepsy (FIME) is a very rare genetic seizure disorder that begins in infancy. Babies with this condition develop myoclonic seizures, which are brief, sudden jerking movements of the muscles. These seizures typically start within the first year or two of life. The condition runs in families, meaning it is passed down from parents to children through their genes. The myoclonic jerks can affect different parts of the body, including the arms, legs, or the whole body. They may happen many times a day and can be triggered by things like being startled, falling asleep
How is Familial infantile myoclonic epilepsy inherited?
Familial infantile myoclonic epilepsy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Familial infantile myoclonic epilepsy typically begin?
Typical onset of Familial infantile myoclonic epilepsy is infantile. Age of onset can vary across affected individuals.