Living with Progressive myoclonic epilepsy type 8
A rare genetic brain condition with muscle jerks, seizures, and slowly worsening thinking, starting in childhood.
Understanding Progressive myoclonic epilepsy type 8
It starts in childhood or the teen years with muscle jerks during movement (action myoclonus) and generalized seizures. Thinking problems slowly worsen and can lead to dementia. Brain tests may show slowed activity and shrinkage of the cerebellum and brainstem.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle jerks during movement (action myoclonus)
- Tonic-clonic (grand mal) seizures
- Poor balance and coordination (ataxia)
- Slurred speech (dysarthria)
- Delays in development and speech
- Worsening thinking, including dementia
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in CERS1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Epilepsy Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the CERS1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: cers1 progressive myoclonic epilepsy; epilepsy, progressive myoclonic, type 8; epm8; pme (progressive myoclonic epilepsy) type 8; pme type 8; progressive myoclonic epilepsy caused by mutation in cers1
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Progressive myoclonic epilepsy type 8.
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