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Progressive myoclonic epilepsy type 1

Progressive myoclonic epilepsy type 1 



Overview

Progressive myoclonic epilepsy type 1 (EPM1 or Unverricht-Lundborg disease) is a rare autosomal recessive neurodegenerative disorder, often considered the most common progressive myoclonic epilepsy, characterized by stimulus-sensitive myoclonus and seizures starting between ages 6–16. Caused by mutations in the CSTB gene, it features progressive worsening of muscle jerks, ataxia, and mild cognitive decline, with treatment focusing on managing symptoms through medication.

Symptoms

Action Myoclonus: The hallmark symptom, featuring involuntary muscle jerks triggered by movement, light, or stress, often leading to disability.

Seizures: Generalized tonic-clonic seizures are common, usually appearing early but often responding to medication.

Progressive Neurological Decline: Symptoms worsen over time, including ataxia (lack of coordination), intentional tremors, and dysarthria.

Age of Onset: Symptoms generally begin between 6 and 15 years old, often in an otherwise healthy child.

Cognitive and Behavioral Changes: While cognitive function can remain relatively stable, mild intellectual decline, depression, and emotional lability can occur. 

Causes

Autosomal Recessive: Both parents must be carriers, with affected individuals inheriting two copies of the mutated gene.

Partial Loss of Function: The mutation reduces the amount of cystatin B produced, which is thought to normally protect cells from proteases that leak from lysosomes

Diagnosis

Clinical Symptoms: Early, involuntary action-activated myoclonus (jerks) and tonic-clonic seizures. Neurological manifestations, including ataxia (imbalance) and incoordination, gradually worsen.

Age of Onset: Typically between 6 and 16 years.

EEG Results: Often shows photosensitivity, with generalized spike-and-wave or polyspike-and-wave paroxysms. EEG is almost always abnormal, even in early stages.

Brain MRI: Usually normal. 

Molecular Genetic Testing: The gold standard is identifying biallelic abnormal dodecamer repeat expansions in the CSTB gene, as noted on MedlinePlus Genetics and in GeneReviews.

Compound Heterozygosity: A CSTB dodecamer repeat expansion paired with another CSTB sequence variant can also establish the diagnosis

Treatment

First-line Medication: Valproic acid (Depakote) is commonly used for both seizures and myoclonus.

Common Add-on Medications: Levetiracetam (Keppra), zonisamide (Zonegran), and clonazepam (Klonopin) are frequently used to treat myoclonic jerks.

Additional Therapies: Piracetam is effective, though not always available in the United States, and perampanel may also be used.

Drug Combinations: Often, multiple medications are required to manage symptoms, as they may become less effective over time. 

Lifestyle Adjustment: Because myoclonus is often triggered by physical exertion, stress, or light, managing these factors is essential.

Treatment Limitations: While medicines help manage the symptoms, they do not stop the slow, progressive neurological decline associated with the condition.

Ongoing Monitoring: Regular care with a neurologist is required to manage medication levels and address worsening symptoms.

Type of Doctor Department : An epileptologist—a neurologist specializing in epilepsy

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