familial adult myoclonic epilepsy 5

Familial Adult Myoclonic Epilepsy (FAME) Description

Familial adult myoclonic epilepsy, also known as benign adult familial myoclonic epilepsy (BAFME), is an inherited epileptic syndrome characterized by:

• Cortical hand tremors: A distinctive feature of this condition, where the hands exhibit a tremulous movement.
• Myoclonic jerks: Sudden, brief muscle contractions that can affect various parts of the body.
• Occasional convulsive seizures: Rarely, individuals with FAME may experience generalized tonic-clonic seizures.

This rare autosomal dominant disorder is characterized by its high penetrance, meaning that most individuals who inherit the genetic variant will develop symptoms. The condition typically affects adults and has a non-progressive or slowly progressive clinical course [5][9].

Signs and Symptoms of Familial Adult Myoclonic Epilepsy

Familial adult myoclonic epilepsy (FAME) is characterized by a core triad of cortical tremor, multifocal myoclonus, and generalized tonic-clonic seizures (GTCS). The symptoms can vary in severity and frequency among individuals.

• Cortical Tremor: A trembling or shaking sensation in the hands, fingers, or face, which can be quite strong and difficult to control [1].
• Multifocal Myoclonus: Sudden, brief muscle contractions that affect various parts of the body, such as the neck, shoulders, upper arms, and often the face [4].
• Generalized Tonic-Clonic Seizures (GTCS): Rare seizures that involve both sides of the brain, causing loss of consciousness, muscle stiffness, and convulsions.

Additional symptoms may include:

• Focal seizures with mesiotemporal symptoms, such as intense déjà vu, nausea, and fear [1].
• Stimulus-induced myoclonic jerks, cognitive decline, and motor slowing [8].

It's essential to note that the clinical course of FAME is non-progressive or slowly progressive, and epilepsy can be commonly controlled with appropriate antiseizure medication [13].

Diagnostic Tests for Familial Adult Myoclonic Epilepsy (FAME)

Familial adult myoclonic epilepsy (FAME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks, and occasional generalized tonic-clonic seizures. The diagnostic work-up for FAME involves a combination of clinical evaluation, electrophysiological investigations, and molecular genetic testing.

• Clinical Evaluation: A thorough medical history and physical examination are essential to identify the characteristic symptoms of FAME, such as cortical hand tremors, myoclonic jerks, and generalized tonic-clonic seizures [5].
• Electrophysiological Investigations: Electrophysiological tests, including electroencephalography (EEG), electromyography (EMG), and somatosensory evoked potentials (SEPs), are crucial for the diagnostic work-up of FAME. These tests can help identify abnormal electrical activity in the brain [8].
• Molecular Genetic Testing: Molecular genetic testing, including chromosomal microarray analysis and whole-exome sequencing, can be used to identify genetic mutations associated with FAME [2].

Recommended Diagnostic Tests

The recommended first-line test for diagnosing FAME is exome or genome sequencing. This test has a substantial diagnostic yield and potential clinical ramifications of identifying a genetic cause for the condition [4].

Treatment Options for Familial Adult Myoclonic Epilepsy

According to available information, the drug treatment for familial adult myoclonic epilepsy (FAME) is primarily focused on managing symptoms and controlling seizures. One medication that has been approved by the US Food and Drug Administration (FDA) as monotherapy for the treatment of myoclonic seizures is Clonazepam [5].

• Clonazepam is a benzodiazepine that can help reduce the frequency and severity of myoclonic seizures.
• It is essential to note that while Clonazepam may be effective in managing symptoms, it may not completely eliminate seizures or prevent their occurrence.

Other medications, such as antiseizure medications (ASMs), may also be prescribed to control seizures and manage symptoms. However, the effectiveness of these medications can vary from person to person, and a comprehensive treatment plan should be developed under the guidance of a healthcare professional [2][6].

It is crucial for individuals with FAME to work closely with their healthcare providers to develop an effective treatment plan that takes into account their specific needs and medical history.

Differential Diagnosis of Familial Adult Myoclonic Epilepsy

Familial adult myoclonic epilepsy (FAME) is a rare autosomal dominant disorder characterized by cortical tremor, multifocal myoclonus, and generalized tonic-clonic seizures (GTCS). Cortical tremor is a jerky postural and action tremor of the hands, usually with adolescent or adult onset, accompanied by neurophysiological features of [5].

Key Differential Diagnoses:

• Juvenile Myoclonic Epilepsy (JME): This condition shares similar seizure types and age of onset with FAME. However, JME typically presents with a more severe course and is often associated with ataxia and dementia.
• Progressive Myoclonus Epilepsies (PMEs): These conditions are characterized by progressive myoclonus, seizures, and other neurological features. PMEs can be distinguished from FAME by their more severe progression and the presence of additional clinical symptoms such as ataxia and dementia.
• Essential Tremor: This is a common movement disorder that can mimic cortical tremor in FAME. However, essential tremor typically presents with a more benign course and is not associated with seizures or other neurological features.

Clinical Features to Distinguish FAME from Other Conditions:

• Cortical tremor: A distinctive feature of FAME, characterized by jerky postural and action tremor of the hands.
• Multifocal myoclonus: A key clinical feature of FAME, often accompanied by cortical tremor.
• Generalized tonic-clonic seizures (GTCS): A common seizure type in FAME, which can be distinguished from other conditions by its association with cortical tremor and multifocal myoclonus.

References:

• [5] Familial Adult Myoclonic Epilepsy is mainly characterized by cortical tremor, myoclonus, and occasional tonic-clonic seizures. Cortical tremor, ... not rarely, the demonstration of the myoclonus cortical origin is often required for the differential diagnosis.
• [9] Familial Adult Myoclonic Epilepsy is mainly characterized by cortical tremor, myoclonus, and occasional tonic-clonic seizures. Cortical tremor, the most distinctive feature of FAME, can be distinguished from other conditions by its association with multifocal myoclonus and GTCS.