Myoclonic progressive familial epilepsy

Myoclonic Progressive Familial Epilepsy
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Myoclonic seizures, progressive neurological decline
Complications	N/A
Onset	Childhood or adolescence
Duration	Lifelong
Types	N/A
Causes	Genetic mutations
Risks	Family history
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Antiepileptic drugs, supportive care
Medication	N/A
Prognosis	Variable
Frequency	N/A
Deaths	N/A

Myoclonic Progressive Familial Epilepsy (MPFE) is a rare neurological disorder characterized by myoclonic seizures and progressive neurological decline. It is a type of epilepsy that is inherited in a familial pattern, often affecting multiple members of a family.

Signs and Symptoms

Individuals with MPFE typically experience myoclonic seizures, which are sudden, involuntary muscle jerks. These seizures can vary in frequency and severity. Over time, affected individuals may also exhibit signs of progressive neurological decline, including cognitive impairment, ataxia, and dementia.

Causes

MPFE is caused by genetic mutations that are inherited in an autosomal dominant or autosomal recessive pattern. Specific genes associated with MPFE include mutations in the EPM2A and NHLRC1 genes, which are also linked to Lafora disease.

Diagnosis

Diagnosis of MPFE involves a combination of clinical evaluation, family history assessment, and genetic testing. Electroencephalogram (EEG) may be used to detect abnormal brain activity associated with seizures. Genetic testing can confirm the presence of mutations in genes known to cause MPFE.

Treatment

There is no cure for MPFE, but treatment focuses on managing symptoms and improving quality of life. Antiepileptic drugs (AEDs) are commonly used to control seizures. Supportive care, including physical therapy and occupational therapy, may help manage neurological symptoms.

Prognosis

The prognosis for individuals with MPFE varies depending on the severity of symptoms and the specific genetic mutation involved. Some individuals may experience a relatively stable course, while others may have a more rapid progression of neurological decline.

See Also

• Epilepsy
• Myoclonic seizure
• Genetic disorder

External Links

• Epilepsy Foundation
• Rare Diseases Information Center