Living with Epilepsy, progressive myoclonic, 1B
A rare inherited condition with balance problems, muscle jerks, and seizures that begins in childhood.
Understanding Epilepsy, progressive myoclonic, 1B
Symptoms usually begin between ages 5 and 10. Balance and coordination problems (ataxia) come first, often with trouble walking and frequent falls. Later, muscle jerks (myoclonus) develop, which can affect swallowing and speech. Some people later develop tonic-clonic seizures, often at night. Intelligence does not seem to be affected.
Signs & symptoms
Symptoms vary from person to person. GARD describes:
- Balance and coordination problems (ataxia)
- Trouble walking and frequent falls
- Muscle jerks or twitches (myoclonus)
- Trouble swallowing
- Slurred speech (dysarthria)
- Tonic-clonic (grand mal) seizures
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 seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation and National Ataxia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation, National Ataxia 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 and other patient organizations
- 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 autosomal recessive, which means a child inherits a changed copy of the gene from each parent. GARD names the PRICKLE1 gene in the condition's alternate name.
Also known as: epilepsy, progressive myoclonic 1b; epilepsy, progressive myoclonic, type 1b; pme; prickle1 progressive myoclonic epilepsy; prickle1-related progressive myoclonic epilepsy with ataxia; progressive myoclonic epilepsy 1b
Patient organizations
- Epilepsy FoundationEpilepsy, progressive myoclonic, 1B · United States
- National Ataxia FoundationEpilepsy, progressive myoclonic, 1B · United States
You are more than your diagnosis
Perspectives from people navigating life with Epilepsy, progressive myoclonic, 1B.
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