Progressive myoclonus epilepsy

Progressive Myoclonus Epilepsy (PME) is a group of diseases characterized by myoclonus, epilepsy, and progressive neurological decline. These diseases are rare. PME accounts for less than 1% of all cases of epilepsy. The two most common forms of PME are Unverricht-Lundborg disease and Lafora disease.

Symptoms

The symptoms of PME include myoclonus, epilepsy, and a progressive neurological decline. Other symptoms may include ataxia, dementia, and visual loss.

Causes

PME is usually caused by genetic mutations and can be inherited in an autosomal recessive manner. The specific genes involved can vary depending on the specific type of PME.

Diagnosis

Diagnosis of PME is based on clinical features, neurophysiological and imaging studies, and genetic testing. The diagnosis is often delayed due to the rarity of the condition and the variability of symptoms.

Treatment

Treatment for PME is symptomatic and supportive. Medications may be used to manage myoclonus and seizures. Physical therapy may be beneficial for some patients.

Prognosis

The prognosis for individuals with PME varies depending on the specific type of PME and the severity of symptoms. In general, the disease is progressive and may lead to disability and life-threatening complications.

See also

• Epilepsy
• Myoclonus
• Neurological disorder

References

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