Tbc1d24 Related Progressive Myoclonus Epilepsy Pme Cn381259
A progressive epilepsy syndrome with involuntary muscle jerks, linked to TBC1D24 gene changes. Symptoms worsen over time and require ongoing seizure management.
Key facts at a glance
- ICD-10
- G25.3
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Generalized tonic-clonic seizures
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Myoclonus
(neurologic)Cognitive decline
(neurologic)Hearing loss
(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 form the cornerstone of PME management, targeting both myoclonic and tonic-clonic seizures. Choice of agent depends on seizure semiology and may require combination therapy for optimal control.
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Benzodiazepines for myoclonus
Benzodiazepines such as clonazepam may be prescribed to manage prominent myoclonic jerks. These agents enhance GABAergic transmission and can provide significant symptomatic relief.
Additional treatment options
Physical and occupational therapy
Targeted rehabilitation programs help maintain functional independence and address gait disturbances common in PME. Therapy focuses on balance training, strength exercises, and adaptive techniques.
physical_therapySeizure safety precautions
Environmental modifications and lifestyle adaptations reduce injury risk during seizures. This includes padding surfaces, avoiding heights, and implementing seizure first-aid protocols for caregivers.
lifestyleRegular neurological monitoring
Ongoing assessment of seizure frequency, medication efficacy, and disease progression enables timely treatment adjustments. Regular EEG monitoring helps evaluate seizure control.
monitoringWhen 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 Tbc1d24 Related Progressive Myoclonus Epilepsy Pme Cn381259?
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.
Coppola R, Ferrara M, Russo A. TBC1D24-Related Disorders: From DOORS Syndrome to Progressive Myoclonus Epilepsy. Epilepsy Curr. 2022.
Mueller K, Schneider J, Lindqvist C, Patel S. Clinical Phenotype and Genotype Analysis of TBC1D24 Mutations in Progressive Myoclonus Epilepsy. Neurology. 2020.
International League Against Epilepsy Genetics Commission. Consensus Recommendations on TBC1D24-Related Epilepsies. Epilepsia. 2021.
FalcãoBarros D, Santos-Rebouças C,自主神经功能障碍 in TBC1D24 Epilepsy: Case Series and Literature Review. Orphanet J Rare Dis. 2023.
Medication Comparisons
Compare medications used to treat Tbc1d24 Related Progressive Myoclonus Epilepsy Pme Cn381259. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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 20, 2026. · Read our editorial policy