Overview
Epilepsy and/or ataxia with myoclonus as a major feature is a group of rare neurological conditions where the main symptoms include seizures (epilepsy), problems with coordination and balance (ataxia), and sudden, brief involuntary muscle jerks (myoclonus). This is not a single disease but rather a category that includes several related disorders, sometimes called progressive myoclonus epilepsies (PMEs) or progressive myoclonus ataxias (PMAs). These conditions share overlapping features, making them challenging to diagnose. The diseases in this group affect the brain and nervous system. Myoclonus — the sudden jerking of muscles — can interfere with walking, eating, and daily tasks. Ataxia causes unsteadiness and difficulty with fine movements. Seizures may vary in type and severity. Over time, many of these conditions are progressive, meaning symptoms gradually worsen. Some forms may also involve cognitive decline or intellectual disability. Treatment is mainly supportive and aimed at controlling symptoms. Anti-seizure medications such as valproate, levetiracetam, and clonazepam are commonly used to manage epilepsy and myoclonus. Physical therapy and occupational therapy can help maintain mobility and independence. The specific underlying cause — which can involve different genes and metabolic pathways — determines the exact prognosis and treatment approach. Genetic testing has become essential for identifying the specific subtype, which helps guide management and family counseling.
Key symptoms:
Sudden involuntary muscle jerks (myoclonus)Seizures or epilepsyUnsteady walking and poor balance (ataxia)Difficulty with coordination and fine movementsTremorMuscle stiffness or spasticitySlurred speechDifficulty swallowingCognitive decline or learning difficultiesVision problemsProgressive weaknessFatigueEmotional or behavioral changes
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Epilepsy and/or ataxia with myoclonus as a major feature.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Epilepsy and/or ataxia with myoclonus as a major feature.
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 Epilepsy and/or ataxia with myoclonus as a major feature.
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 specific subtype of this condition do I or my child have, and what gene is involved?,What is the expected course of this disease over time?,Which medications should be used, and which ones should be strictly avoided?,Are there any clinical trials or experimental treatments available for this specific subtype?,What therapies (physical, occupational, speech) would be most helpful right now?,What are the chances that other family members could be affected or be carriers?,What emergency plan should we have in place for prolonged seizures?
Common questions about Epilepsy and/or ataxia with myoclonus as a major feature
What is Epilepsy and/or ataxia with myoclonus as a major feature?
Epilepsy and/or ataxia with myoclonus as a major feature is a group of rare neurological conditions where the main symptoms include seizures (epilepsy), problems with coordination and balance (ataxia), and sudden, brief involuntary muscle jerks (myoclonus). This is not a single disease but rather a category that includes several related disorders, sometimes called progressive myoclonus epilepsies (PMEs) or progressive myoclonus ataxias (PMAs). These conditions share overlapping features, making them challenging to diagnose. The diseases in this group affect the brain and nervous system. Myocl