Overview
Progressive myoclonic epilepsy type 9 (PME9) is an extremely rare genetic brain disorder that belongs to a group of conditions called progressive myoclonic epilepsies. These are conditions where patients develop both seizures and myoclonus (sudden, brief involuntary muscle jerks) that worsen over time. PME9 is caused by mutations in the LMNB2 gene, which provides instructions for making a protein called lamin B2 that plays an important role in the structure of the cell nucleus. People with PME9 typically begin showing symptoms in childhood or adolescence. The hallmark features include myoclonic jerks (sudden muscle twitches), generalized tonic-clonic seizures (formerly called grand mal seizures), and a gradual decline in thinking and coordination abilities. Over time, patients may develop difficulty walking, problems with balance, and cognitive decline. The seizures and myoclonus tend to become harder to control as the disease progresses. There is currently no cure for PME9. Treatment focuses on managing seizures and myoclonus with anti-seizure medications, though these may become less effective over time. Supportive therapies such as physical therapy, occupational therapy, and speech therapy can help maintain function and quality of life for as long as possible. Because this condition is so rare, much of the management is guided by experience with other progressive myoclonic epilepsies.
Also known as:
Key symptoms:
Sudden involuntary muscle jerks (myoclonus)Seizures, including generalized tonic-clonic seizuresProgressive difficulty with coordination and balance (ataxia)Cognitive decline over timeDifficulty walkingSlurred or worsening speechTremorMuscle stiffness or spasticityDifficulty with fine motor tasks like writingProgressive loss of independenceEEG abnormalities
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Progressive myoclonic epilepsy type 9.
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Specialists
View all specialists →No specialists are currently listed for Progressive myoclonic epilepsy type 9.
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 9.
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 medications are best for controlling my seizures and myoclonus, and what side effects should I watch for?,How quickly might this condition progress, and what changes should I expect over time?,Are there any medications I should avoid because they could make my symptoms worse?,Should my family members be tested for the LMNB2 gene mutation?,What therapies (physical, occupational, speech) would benefit me most right now?,Are there any clinical trials or research studies I could participate in?,What emergency plan should I have in place for prolonged seizures?
Common questions about Progressive myoclonic epilepsy type 9
What is Progressive myoclonic epilepsy type 9?
Progressive myoclonic epilepsy type 9 (PME9) is an extremely rare genetic brain disorder that belongs to a group of conditions called progressive myoclonic epilepsies. These are conditions where patients develop both seizures and myoclonus (sudden, brief involuntary muscle jerks) that worsen over time. PME9 is caused by mutations in the LMNB2 gene, which provides instructions for making a protein called lamin B2 that plays an important role in the structure of the cell nucleus. People with PME9 typically begin showing symptoms in childhood or adolescence. The hallmark features include myoclon
How is Progressive myoclonic epilepsy type 9 inherited?
Progressive myoclonic epilepsy type 9 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.