Foundation for Mitochondrial Medicine

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Foundation for Mitochondrial Medicine

Epilepsy

WHAT IS EPILEPSY

Epilepsy is a disease characterized by an enduring predisposition to generate epileptic seizures and by the neurobiological, cognitive, psychological, and social consequences of this condition. Translation: a seizure is an event and epilepsy is the disease involving recurrent unprovoked seizures.

PREVALENCE

According to the latest estimates, about 1.8% of adults aged 18 years or older have had a diagnosis of epilepsy or seizure disorder.

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HOW IS EPILEPSY CONNECTED TO MITOCHONDRIAL DISEASE?

Studies suggest that as many as 50% of patients with mitochondrial disease have epilepsy.

Two mitochondrial disorders can be associated with epileptic seizures. One is MELAS: mitochondrial encephalopathy, lactic acidosis (meaning too much lactic acid in the blood), and stroke-like episodes. MELAS can lead to stroke-like episodes at a young age (usually before 40), seizures, dementia, headaches, vomiting, unsteadiness, and ill effects from exercise. Persons with MELAS can have both generalized (including myoclonic and tonic-clonic) and partial seizures.

The other mitochondrial disorder with epileptic seizures is MERRF: myoclonic epilepsy with ragged red muscle fibers). MERRF is one of the progressive myoclonic epilepsies. It can also be associated with hearing loss, unsteadiness, dementia, and ill effects from exercise. In addition to myoclonic seizures, patients with MERRF often have generalized tonic-clonic seizures

There are other mitochondrial disorders that do not fit clearly into the MELAS or MERRF syndromes but which can cause epilepsy and additional neurological problems.

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