familial adult myoclonic epilepsy 6

Familial Adult Myoclonic Epilepsy (FAME) Description

Familial adult myoclonic epilepsy, also known as benign adult familial myoclonus epilepsy (BAFME), is a rare autosomal dominant condition featuring cortical hand tremors, myoclonic jerks, and occasional/rare convulsive seizures [6].

Key Characteristics:

• Myoclonus: The first symptom of FAME is usually myoclonus, characterized by tremulous finger movements and myoclonus of the extremities [7].
• Cortical Hand Tremors: Patients with FAME often experience cortical hand tremors, which are a hallmark feature of this condition.
• Myoclonic Jerks: Myoclonic jerks are another common symptom of FAME, where patients may experience sudden, brief muscle contractions.
• Occasional/Rare Convulsive Seizures: While convulsive seizures are not a typical feature of FAME, they can occur in some cases.

References:

[6] I Lagorio · 2019 · Cited by 29 — A high-penetrant autosomal dominant condition featuring cortical hand tremors, myoclonic jerks, and occasional/rare convulsive seizures. [7] Myoclonus is usually the first symptom and is characterized by tremulous finger movements and myoclonus of the extremities (summary by Depienne et al., 2010).

Familial Adult Myoclonic Epilepsy (FAME) is mainly characterized by cortical tremor, myoclonus, and occasional tonic-clonic seizures. Cortical tremor, the most distinctive feature of FAME, is a type of involuntary movement that affects the hands or fingers, often accompanied by a sense of fear or anxiety [6].

The symptoms of FAME can vary in severity and frequency among individuals, but they typically include:

• Cortical tremor: A type of involuntary movement that affects the hands or fingers, often accompanied by a sense of fear or anxiety.
• Myoclonus: Sudden, brief muscle contractions that can affect various parts of the body, including the neck, shoulders, upper arms, and face.
• Tonic-clonic seizures: Rare but potentially severe seizures that involve both motor and sensory symptoms.

In some cases, individuals with FAME may also experience additional clinical symptoms, such as:

• Stimulus-induced myoclonic jerks: Sudden muscle contractions triggered by external stimuli, such as loud noises or sudden movements.
• Cognitive decline: Gradual worsening of cognitive function, including memory and attention problems.
• Motor slowing: Slowing of motor function, which can affect coordination and balance.

It's essential to note that the symptoms of FAME can vary widely among individuals, and not everyone will experience all of these symptoms. If you suspect you or a family member may have FAME, it's crucial to consult with a healthcare professional for proper diagnosis and treatment [6].

Diagnostic Tests for Familial Adult Myoclonic Epilepsy

Familial adult myoclonic epilepsy (FAME) is a complex condition that requires a comprehensive diagnostic approach. The following tests are essential for an accurate diagnosis:

• Electrophysiological investigations: These include EEG, EMG, and SEPs, which are crucial for diagnosing FAME. EEG background is usually normal in FAME patients, but may show abnormalities during seizures or myoclonic episodes [7].
• Neuropsychological tests: Performing neuropsychological tests can help evaluate cognitive deterioration and confirm FAME cases [10].
• Whole exome sequencing: This genetic test is recommended as the first-line diagnostic approach for FAME. It has substantial diagnostic yields and potential clinical ramifications [4].
• Pentamer repeat examinations: These genetic tests may be performed after whole exome sequencing to further refine the diagnosis.
• Clinical evaluation: A detailed neurophysiological study, including EEG, EMG, and SEPs, is essential for diagnosing FAME. This should be accompanied by a clinical evaluation to assess the presence of myoclonic tremor, epilepsy, and other symptoms [14].

Diagnostic Teams

A multidisciplinary diagnostic team may include:

• Genetics: To perform genetic tests and provide guidance on genetic counseling.
• Neurology: To evaluate neurological symptoms, perform electrophysiological investigations, and manage seizures.

These diagnostic tests and teams are essential for an accurate diagnosis of familial adult myoclonic epilepsy.

Current Drug Treatment Options for Familial Adult Myoclonic Epilepsy (FAME)

According to the available information, there is no curative treatment for FAME, and clinical management is essentially symptomatic and based on antiseizure medications (ASMs) [6]. The primary goal of drug treatment in FAME patients is to control seizures and manage symptoms.

• Clonazepam: This medication has been approved by the US Food and Drug Administration as monotherapy

Differential Diagnosis of Familial Adult Myoclonic Epilepsy

Familial adult myoclonic epilepsy (FAME) is an under-recognized disorder characterized by cortical myoclonus, generalized tonic-clonic seizures, and additional clinical symptoms. The differential diagnosis for FAME includes:

• Progressive myoclonus epilepsies (PMEs): Such as Unverricht-Lundborg disease, which can present with similar symptoms to FAME.
• Essential tremor: A condition that affects the hands and other parts of the body, which can be mistaken for cortical tremor in FAME patients.
• Genetic generalized epilepsy: Certain forms of this condition can have overlapping symptoms with FAME.
• Progressive myoclonus epilepsies (PMEs): Such as Unverricht-Lundborg disease, which can present with similar symptoms to FAME.

It's essential to distinguish FAME from these conditions through a thorough clinical evaluation and diagnostic testing. [6]

References

[6] Feb 8, 2023 — FAME is an under-recognized disorder characterized by cortical myoclonus, generalized tonic–clonic seizures, and additional clinical symptoms.