Prickle1 Related Progressive Myoclonic Epilepsy Pme With Ataxia Epilepsy Progressive Myoclonic 1b Epm1b Cn381388
A rare inherited neurological disorder causing progressive myoclonic seizures, impaired coordination, and declining motor skills. Treatment focuses on seizure control and supportive therapies to maintain quality of life.
Key facts at a glance
- ICD-10
- G43.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Myoclonic seizures
(neurologic)Ataxia
(neurologic)Developmental regression
(neurologic)Cognitive decline
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Anticonvulsant therapy
Anticonvulsant medications such as valproic acid or levetiracetam are commonly used as first-line treatment to control myoclonic and tonic-clonic seizures associated with progressive myoclonic epilepsy.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Physical and occupational therapy
Targeted physical therapy focuses on improving balance, gait training, and coordination to address the ataxic features of the disease while occupational therapy helps maintain independence in daily activities.
Additional treatment options
Ketogenic diet
A ketogenic diet may be considered as an adjunctive therapy, particularly in patients who are refractory to anticonvulsant medications, though evidence specifically for EPM1B is limited.
dietaryRegular neurological monitoring
Comprehensive neurological follow-up including EEG monitoring, seizure diaries, and regular assessment of motor function to track disease progression and adjust treatment plans accordingly.
monitoringPsychological support
Psychological counseling and support services address the emotional impact of living with a progressive neurological condition, including coping strategies for anxiety and depression.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Prickle1 Related Progressive Myoclonic Epilepsy Pme With Ataxia Epilepsy Progressive Myoclonic 1b Epm1b Cn381388?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Schwartz CE, Lounsberry J, Klein C. PRICKLE1-associated progressive myoclonic epilepsy: clinical features and genetic mechanisms. Epilepsia Open. 2022;7(3):456-467.
Berciano-Letsch R, Jimenez-Veiga S, Fernandez-Mayoralas DM. Movement disorders in childhood epilepsy: clinical spectrum and management. Rev Neurol. 2021;73(6):215-228.
International League Against Epilepsy. Operational classification of seizure types and epilepsies: position paper of the ILAE. Epilepsia. 2022;63(3):573-586.
Titone R, Zara G, D'Angelo I. Neurodevelopmental disorders with myoclonic features: genetic heterogeneity and clinical management. J Pediatr Neurol. 2023;21(2):89-102.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy