Overview
Progressive myoclonic epilepsy with dystonia (also sometimes called PME with dystonia) is a very rare genetic neurological condition that affects the brain's ability to control movement and electrical activity. People with this condition experience myoclonic seizures, which are sudden, brief, involuntary muscle jerks, along with other types of epileptic seizures that tend to worsen over time. In addition to seizures, affected individuals develop dystonia, which causes muscles to contract involuntarily, leading to abnormal postures and twisting movements. These movement problems can affect the limbs, trunk, or face. The disease typically begins in childhood or adolescence and tends to get progressively worse over time. Cognitive abilities may also decline as the disease advances, and individuals may experience difficulties with coordination, balance, and daily activities. The combination of worsening seizures and movement problems can significantly impact quality of life. Treatment is mainly focused on managing symptoms. Anti-seizure medications are used to reduce the frequency and severity of seizures, though they may become less effective over time. Medications and therapies for dystonia can help with abnormal movements. There is currently no cure for this condition, and management requires a team of specialists working together to address the various symptoms and support the patient and family.
Also known as:
Key symptoms:
Sudden involuntary muscle jerks (myoclonus)Seizures that worsen over timeInvoluntary muscle contractions causing abnormal postures (dystonia)Difficulty with coordination and balanceUnsteady walkingCognitive decline or learning difficultiesSpeech difficultiesDifficulty with fine motor tasks like writingTremorStiffness in musclesProgressive loss of motor skillsDifficulty swallowing in advanced stages
Clinical phenotype terms (22)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Progressive myoclonic epilepsy with dystonia.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Progressive myoclonic epilepsy with dystonia 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 with dystonia.
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 with dystonia.
Community
No community posts yet. Be the first to share your experience with Progressive myoclonic epilepsy with dystonia.
Start the conversation →Latest news about Progressive myoclonic epilepsy with dystonia
No recent news articles for Progressive myoclonic epilepsy with dystonia.
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 specific genetic mutation is causing this condition in my child or family member?,What medications are best for controlling both the seizures and the dystonia?,Are there any medications we should avoid because they could make symptoms worse?,How quickly might this condition progress, and what should we watch for?,Are there any clinical trials or experimental treatments available?,What therapies (physical, occupational, speech) would be most helpful right now?,Should other family members be tested for this genetic condition?
Common questions about Progressive myoclonic epilepsy with dystonia
What is Progressive myoclonic epilepsy with dystonia?
Progressive myoclonic epilepsy with dystonia (also sometimes called PME with dystonia) is a very rare genetic neurological condition that affects the brain's ability to control movement and electrical activity. People with this condition experience myoclonic seizures, which are sudden, brief, involuntary muscle jerks, along with other types of epileptic seizures that tend to worsen over time. In addition to seizures, affected individuals develop dystonia, which causes muscles to contract involuntarily, leading to abnormal postures and twisting movements. These movement problems can affect the
How is Progressive myoclonic epilepsy with dystonia inherited?
Progressive myoclonic epilepsy with dystonia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Progressive myoclonic epilepsy with dystonia typically begin?
Typical onset of Progressive myoclonic epilepsy with dystonia is childhood. Age of onset can vary across affected individuals.