Overview
Progressive myoclonic epilepsy type 7 (PME7) is a rare inherited brain disorder caused by changes in the KCNC1 gene. This gene provides instructions for making a protein that helps control electrical signals in nerve cells. When this protein does not work properly, the brain becomes prone to abnormal bursts of electrical activity, leading to seizures and movement problems. PME7 is also sometimes referred to as KCNC1-related progressive myoclonic epilepsy. The condition typically begins in childhood or adolescence and gets worse over time. The most noticeable symptoms are myoclonus (sudden, brief muscle jerks), tonic-clonic seizures (convulsions involving the whole body), and problems with balance and coordination called ataxia. Over time, many people also develop difficulties with speech and swallowing, and some experience a decline in thinking and memory skills. There is currently no cure for PME7. Treatment focuses on managing seizures with anti-seizure medications and supporting quality of life through physical therapy, speech therapy, and occupational therapy. Because the disease is progressive, symptoms tend to worsen gradually, and care needs increase over time. A team of specialists is usually needed to provide the best support.
Also known as:
Key symptoms:
Sudden, brief muscle jerks (myoclonus)Generalized tonic-clonic seizures (convulsions)Problems with balance and coordination (ataxia)Unsteady or wobbly walkingSlurred or slow speechDifficulty swallowingTremor (shaking of the hands or limbs)Decline in memory and thinking skills over timeSensitivity to light (photosensitivity) that can trigger seizuresFatigue and low energyDifficulty with fine motor tasks like writing or buttoning clothes
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Juvenile
Begins in the teen years
Treatments
No FDA-approved treatments are currently listed for Progressive myoclonic epilepsy type 7.
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Specialists
View all specialists →No specialists are currently listed for Progressive myoclonic epilepsy type 7.
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 Progressive myoclonic epilepsy type 7.
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.Which anti-seizure medications are most appropriate for my type of PME, and which ones should I avoid?,How quickly do you expect my symptoms to progress, and what signs should I watch for?,Should other family members be tested for the KCNC1 gene change?,What therapies (physical, occupational, speech) do you recommend, and how often should I attend?,Is there a rescue medication I should have at home for prolonged seizures, and how do I use it?,Are there any clinical trials or research studies I could participate in?,What support services or patient organizations are available to help my family?
Common questions about Progressive myoclonic epilepsy type 7
What is Progressive myoclonic epilepsy type 7?
Progressive myoclonic epilepsy type 7 (PME7) is a rare inherited brain disorder caused by changes in the KCNC1 gene. This gene provides instructions for making a protein that helps control electrical signals in nerve cells. When this protein does not work properly, the brain becomes prone to abnormal bursts of electrical activity, leading to seizures and movement problems. PME7 is also sometimes referred to as KCNC1-related progressive myoclonic epilepsy. The condition typically begins in childhood or adolescence and gets worse over time. The most noticeable symptoms are myoclonus (sudden, br
How is Progressive myoclonic epilepsy type 7 inherited?
Progressive myoclonic epilepsy type 7 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Progressive myoclonic epilepsy type 7 typically begin?
Typical onset of Progressive myoclonic epilepsy type 7 is juvenile. Age of onset can vary across affected individuals.