Overview
Progressive myoclonic epilepsy type 6 (PME6), also known as GOSR2-related progressive myoclonic epilepsy, is a very rare genetic neurological disorder that affects the brain and nervous system. It is caused by mutations in the GOSR2 gene, which plays a role in how proteins are transported within cells. The disease typically begins in early childhood and is characterized by a combination of seizures, involuntary jerking movements (myoclonus), and progressive difficulty with coordination and walking (ataxia). Children with PME6 often first show signs of the condition through early walking difficulties and clumsiness, sometimes described as an unsteady gait. Over time, myoclonic jerks become more prominent and seizures develop, which can include generalized tonic-clonic seizures (also called grand mal seizures). The condition is progressive, meaning symptoms tend to worsen over time. Many affected individuals also develop scoliosis (curvature of the spine) and may eventually lose the ability to walk independently. There is currently no cure for PME6. Treatment focuses on managing symptoms, particularly controlling seizures with anti-epileptic medications. Physical therapy and occupational therapy are important to help maintain mobility and daily function for as long as possible. Because the disease is so rare, research is still ongoing to better understand it and develop more effective treatments.
Also known as:
Key symptoms:
Involuntary muscle jerking (myoclonus)Seizures, including grand mal seizuresUnsteady walking and poor balance (ataxia)Progressive difficulty walkingScoliosis (curved spine)Muscle stiffness or spasticityLoss of ability to walk independentlyDifficulty with fine motor skillsTremorSpeech difficultiesCognitive decline over timeFrequent fallsAction-triggered jerking movements
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 type 6.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Progressive myoclonic epilepsy type 6 at this time.
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Specialists
View all specialists →No specialists are currently listed for Progressive myoclonic epilepsy type 6.
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 6.
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 GOSR2 mutation does my child have, and what does it mean for their prognosis?,Which anti-epileptic medications are safest and most effective for this type of epilepsy, and which should be avoided?,How quickly should we expect the disease to progress, and what milestones should we watch for?,What physical therapy and rehabilitation programs do you recommend to maintain mobility?,Should we be screened for scoliosis, and how often?,Are there any clinical trials or research studies we could participate in?,What genetic counseling is available for our family regarding future pregnancies?
Common questions about Progressive myoclonic epilepsy type 6
What is Progressive myoclonic epilepsy type 6?
Progressive myoclonic epilepsy type 6 (PME6), also known as GOSR2-related progressive myoclonic epilepsy, is a very rare genetic neurological disorder that affects the brain and nervous system. It is caused by mutations in the GOSR2 gene, which plays a role in how proteins are transported within cells. The disease typically begins in early childhood and is characterized by a combination of seizures, involuntary jerking movements (myoclonus), and progressive difficulty with coordination and walking (ataxia). Children with PME6 often first show signs of the condition through early walking diffi
How is Progressive myoclonic epilepsy type 6 inherited?
Progressive myoclonic epilepsy type 6 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Progressive myoclonic epilepsy type 6 typically begin?
Typical onset of Progressive myoclonic epilepsy type 6 is childhood. Age of onset can vary across affected individuals.