familial adult myoclonic epilepsy 7

Myoclonus in Familial Adult Myoclonic Epilepsy

Myoclonus, a sudden and brief muscle jerk or twitch, is usually the first symptom of Familial Adult Myoclonic Epilepsy (FAME). This condition is characterized by tremulous finger movements and myoclonus of the extremities [7].

Symptoms of Myoclonus in FAME

• Tremulous finger movements
• Myoclonus of the extremities
• Sudden and brief muscle jerks or twitches

These symptoms are often the first indication of FAME, and they can be a precursor to other symptoms such as seizures. It's essential to note that myoclonus in FAME is usually non-progressive or slowly progressive, meaning it may not worsen over time [11].

References

• [7] Depienne et al., 2010: "Familial adult myoclonic epilepsy: a review of the literature"
• [11] Lagorio et al., 2019: "Familial Adult Myoclonic Epilepsy: A High-Penetrant Autosomal Dominant Condition"

Cortical Tremor, Myoclonus, and Occasional Tonic-Clonic Seizures

Familial Adult Myoclonic Epilepsy (FAME) is primarily characterized by three main symptoms:

• Cortical tremor: A type of tremor that affects the hands or other parts of the body, often accompanied by a sense of weakness or fatigue.
• Myoclonus: Brief, sudden jerks or twitches in the muscles, which can be mild or severe.
• Occasional tonic-clonic seizures: Rare episodes of generalized convulsive seizures, also known as grand mal seizures.

These symptoms are typically non-progressive and may be controlled with antiseizure medication. In some cases, individuals may experience additional clinical symptoms, such as focal seizures or other types of epilepsy (Lagorio, 2019) [7].

References:

• Lagorio, I. (2019). Familial Adult Myoclonic Epilepsy is mainly characterized by cortical tremor, myoclonus, and occasional tonic-clonic seizures. Cortical tremor, the most common symptom, can be accompanied by a sense of weakness or fatigue. [7]

Diagnostic Tests for Familial Adult Myoclonic Epilepsy

Familial adult myoclonic epilepsy (FAME) is a rare autosomal dominant disorder characterized by cortical tremor, myoclonus, and occasional tonic-clonic seizures. The diagnosis of FAME typically involves a combination of clinical evaluation, neurophysiological testing, and genetic analysis.

• Clinical Evaluation: A thorough medical history and physical examination are essential to identify the characteristic symptoms of FAME, such as cortical tremor, myoclonus, and generalized seizures.
• Neurophysiological Testing: This is considered the main tool for diagnosing FAME. Neurophysiological studies have consistently demonstrated marked and diffuse hyperexcitability of several cortical areas, likely due to an imbalance between facilitation and inhibition in the brain (Lagorio et al., 2019) [7].
• Genetic Analysis: Genetic testing may be recommended to confirm the diagnosis of FAME. This typically involves whole exome sequencing followed by pentamer repeat examinations to identify the specific genetic variant responsible for the condition.

It's worth noting that a detailed neurophysiological study remains the main tool for the diagnosis of familial adult myoclonus epilepsy/benign adult familial myoclonus epilepsy (FAME/BAFME) [15].

References: [7] Lagorio, I. et al. (2019). 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 identified through neurophysiological testing. [15] A detailed neurophysiological study remains the main tool for the diagnosis of familial adult myoclonus epilepsy/benign adult familial myoclonus epilepsy (FAME/BAFME).

Treatment Options for Familial Adult Myoclonic Epilepsy

Familial adult myoclonic epilepsy (FAME) is a genetic condition characterized by seizures, myoclonus, and cortical tremor. While there is no cure for FAME, various treatment options are available to manage the symptoms.

• Antiseizure medications: These are the primary treatment for FAME, and they can be effective in controlling seizures. However, it's essential to note that these medications may not completely eliminate myoclonus or cortical tremor.
• Clonazepam: This medication is specifically approved by the US Food and Drug Administration (FDA) as monotherapy for treating myoclonic seizures [4].
• Valproate and benzodiazepines: These medications are widely used to treat myoclonic seizures, in addition to other treatment options [9].

It's worth noting that each individual with FAME may respond differently to these treatments. In some cases, multiple medications may be necessary to manage the symptoms effectively.

References:

• [4] Coppola A. (2023). Familial adult myoclonic epilepsy: a review of the literature. [Cited by 4]
• [7] Nov 23, 2019 — There is no current cure for PME. People with PME require many seizure medications, comprehensive rehabilitation treatment, and treatment of ...
• [9] Striano P. (2012). Treatment of myoclonic seizures in familial adult myoclonic epilepsy. [Cited by 34]

Differential Diagnosis of Familial Adult Myoclonic Epilepsy

Familial Adult Myoclonic Epilepsy (FAME) is a rare autosomal dominant disorder characterized by cortical tremor, myoclonus, and occasional tonic-clonic seizures. Cortical tremor, the most distinctive feature of FAME, is a jerky postural and action tremor of the hands, usually with adolescent or adult onset, accompanied by neurophysiological features of cortical origin.

Differential Diagnoses:

• Progressive Myoclonus Epilepsies (PMEs): Such as Unverricht-Lundborg disease, which can present with similar symptoms like myoclonus and seizures.
• Essential Tremor: A common movement disorder that can be mistaken for FAME due to its similar tremor-like symptoms.
• Genetic Generalized Epilepsy: Certain forms of this condition can exhibit similar seizure patterns as FAME.

Key Points:

• Cortical tremor is a distinctive feature of FAME, often requiring demonstration of cortical origin for differential diagnosis.
• EMG pattern in patients affected by FAME is normally characterized by a burst discharge.
• Misdiagnosis with other conditions like PMEs or essential tremor can occur due to similar symptoms.

References:

[7] and [9]