Overview
Progressive myoclonic epilepsy type 5 (PME5), also known as PRICKLE1-related progressive myoclonus epilepsy, is a very rare inherited neurological condition. It belongs to a group of disorders called progressive myoclonic epilepsies, which are characterized by seizures that worsen over time along with involuntary muscle jerking (myoclonus) and a gradual decline in brain function. In this condition, affected individuals typically develop myoclonic jerks — sudden, brief, shock-like muscle twitches — along with generalized tonic-clonic seizures (formerly called grand mal seizures). Over time, people with PME5 may also experience difficulties with coordination and balance (ataxia), cognitive decline, and problems with speech. The disease tends to get worse gradually, meaning symptoms become more severe and harder to control as time goes on. There is currently no cure for progressive myoclonic epilepsy type 5. Treatment focuses on managing seizures and myoclonus with anti-seizure medications, though seizures in progressive myoclonic epilepsies can be difficult to fully control. Supportive therapies such as physical therapy, occupational therapy, and speech therapy may help maintain function and quality of life for as long as possible. Research into the underlying genetic mechanisms continues, but disease-modifying treatments are not yet available.
Also known as:
Key symptoms:
Involuntary muscle jerking (myoclonus)Seizures, including generalized tonic-clonic seizuresProgressive loss of coordination and balance (ataxia)Cognitive decline over timeDifficulty with speechDifficulty walkingTremorMuscle stiffnessLoss of previously acquired skillsDifficulty with fine motor tasks like writing
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 5.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Progressive myoclonic epilepsy type 5 at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Progressive myoclonic epilepsy type 5.
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 5.
Community
No community posts yet. Be the first to share your experience with Progressive myoclonic epilepsy type 5.
Start the conversation →Latest news about Progressive myoclonic epilepsy type 5
No recent news articles for Progressive myoclonic epilepsy type 5.
Follow this condition to be notified when news becomes available.
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 type of progressive myoclonic epilepsy does my family member have, and how was the diagnosis confirmed?,What medications are recommended, and which ones should be avoided because they could make symptoms worse?,What is the expected course of this disease, and how quickly might symptoms progress?,What therapies (physical, occupational, speech) should we start now?,What should we do if a seizure lasts longer than 5 minutes?,Are there any clinical trials or research studies we could participate in?,Should other family members be tested for the PRICKLE1 gene variant?
Common questions about Progressive myoclonic epilepsy type 5
What is Progressive myoclonic epilepsy type 5?
Progressive myoclonic epilepsy type 5 (PME5), also known as PRICKLE1-related progressive myoclonus epilepsy, is a very rare inherited neurological condition. It belongs to a group of disorders called progressive myoclonic epilepsies, which are characterized by seizures that worsen over time along with involuntary muscle jerking (myoclonus) and a gradual decline in brain function. In this condition, affected individuals typically develop myoclonic jerks — sudden, brief, shock-like muscle twitches — along with generalized tonic-clonic seizures (formerly called grand mal seizures). Over time, pe
How is Progressive myoclonic epilepsy type 5 inherited?
Progressive myoclonic epilepsy type 5 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.