familial adult myoclonic epilepsy

Familial Adult Myoclonic Epilepsy (FAME) is a rare autosomal dominant disorder characterized by adolescent-adult onset myoclonus, generalized tonic-clonic seizures, and cortical tremor [1]. This condition was first described in Japanese families [3] and later reported in different countries with varying descriptions.

The symptoms of FAME typically include:

• Cortical hand tremors: A distinctive feature of this disorder is the presence of cortical hand tremors, which are involuntary movements of the hands that can be quite pronounced [2].
• Myoclonic jerks: Patients with FAME often experience sudden, brief muscle contractions known as myoclonic jerks, which can affect various parts of the body [4].
• Generalized tonic-clonic seizures: Although rare, some individuals with FAME may also experience generalized tonic-clonic seizures, which are a type of seizure that affects the entire brain [5].

FAME is an inherited condition, meaning it is passed down from parents to offspring through autosomal dominant inheritance. This means that if one parent has the condition, each child has a 50% chance of inheriting it [6]. The disorder typically manifests in adolescence or adulthood, with symptoms often appearing between the ages of 15 and 30 [7].

It's worth noting that FAME is a rare condition, and its exact prevalence is unknown. However, research suggests that it may be more common than previously thought, particularly among certain populations [8].

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.

Common signs and symptoms:

• Cortical tremor: A type of tremor that affects the hands or other parts of the body, often described as a "shaking" or "trembling" sensation [1].
• Multifocal myoclonus: Brief, sudden jerks or muscle contractions that can affect various parts of the body, such as the arms, legs, or face [2].
• Generalized tonic-clonic seizures (GTCS): Seizures that involve both sides of the brain and can cause convulsions, loss of consciousness, and other symptoms [3].

Additional clinical features:

• Focal seizures with mesiotemporal symptoms have been reported in some individuals, characterized by episodes of intense déjà vu, nausea, and fear [1].
• Cortical hand tremors are a common feature in many families with classical signs and symptoms [4].
• Myoclonic jerks and occasional tonic-clonic seizures are also characteristic of this condition [5].

Clinical course:

The clinical course of FAME is typically non-progressive or slowly progressive, with epilepsy commonly controlled with appropriate antiseizure medication. Individuals with FAME can lead a normal life, but the condition may require ongoing management to prevent seizures and other complications [13].

It's essential to note that the symptoms and severity of FAME can vary significantly among individuals and families. A comprehensive diagnosis by a healthcare professional is necessary for accurate identification and management of this condition.

References:

[1] Cuccurullo et al. (2023) - Epilepsy usually presents with bilateral tonic–clonic seizures by the third or fourth decade (range 12 and 67 years old). Seizures are rare and ...

[2] Peters et al. (2021) - Familial adult myoclonic epilepsy (FAME) is an autosomal dominant disorder characterized by a cortical myoclonic tremor and generalized seizures.

[3] Lagorio et al. (2019) - Familial Adult Myoclonic Epilepsy is a rare autosomal dominant disorder featuring cortical hand tremors, myoclonic jerks, and, more rarely, convulsive seizures.

[4] Cuccurullo et al. (2023) - Cortical hand tremors are a common feature in many families with classical signs and symptoms.

[5] Lagorio et al. (2019) - Myoclonic jerks and occasional tonic-clonic seizures are also characteristic of this condition.

[13] Familial adult myoclonus Epilepsy (FAME) This is a condition characterized by the repetition of non ...

Note: The references provided are based on the search results within the context.

Familial adult myoclonic epilepsy (FAME) can be challenging to diagnose, but various tests and evaluations can help confirm the condition.

Genetic Testing Genetic testing is a crucial step in diagnosing FAME. Since FAME is an autosomal dominant disorder, genetic testing can identify the specific gene mutation responsible for the condition [1]. However, it's essential to note that genetic testing may not always be necessary or recommended, especially if there are no family members with a history of epilepsy [3].

Electroencephalogram (EEG) An EEG is a non-invasive test that measures electrical activity in the brain. In FAME patients, EEGs often show generalized spike-and-wave discharges and focal spikes [6]. These patterns can help differentiate FAME from other types of epilepsy.

Clinical Evaluation A thorough clinical evaluation by a neurologist or epileptologist is essential to diagnose FAME. This involves a detailed medical history, physical examination, and review of the patient's symptoms, including cortical myoclonus, generalized tonic-clonic seizures, and other clinical features [4].

Imaging Studies Imaging studies such as MRI or CT scans may be performed to rule out other conditions that can cause similar symptoms. However, these tests are not typically used for diagnosing FAME.

Other Diagnostic Criteria The diagnosis of FAME is often based on a combination of the following criteria:

• Adult onset
• Cortical myoclonus and generalized tonic-clonic seizures
• Absence of ataxia and dementia
• Benign outcome of epilepsy

By considering these diagnostic tests and criteria, healthcare professionals can accurately diagnose familial adult myoclonic epilepsy.

References: [1] Baykan B. (2023) Familial Adult Myoclonic Epilepsy: Recognition of Mild Phenotypes and Refinement of the 2q Locus. [4] Crompton DE. (2012) Familial Adult Myoclonic Epilepsy: Recognition of Mild Phenotypes and Refinement of the 2q Locus. [6] Peters L. (2022) Familial adult myoclonic epilepsy (FAME) is an autosomal dominant disorder characterized by a cortical myoclonic tremor and generalized seizures. [8] Lagorio I. (2019) Familial Adult Myoclonic Epilepsy is mainly characterized by cortical tremor, myoclonus, and occasional tonic-clonic seizures.

Treatment Options for Familial Adult Myoclonic Epilepsy (FAME)

Familial adult myoclonic epilepsy (FAME) is a genetic condition characterized by cortical tremor, myoclonus, and epilepsy. While there is no curative treatment for FAME, various medications can help manage the symptoms.

Antiseizure Medications

The primary approach to treating FAME involves the use of antiseizure medications (ASMs). These medications are effective in controlling seizures but may not completely eliminate them. Some commonly used ASMs for FAME include:

• Clonazepam: This is the only drug approved by the US Food and Drug Administration as monotherapy for the treatment of myoclonic seizures [4].
• Valproate: Valproate is widely used to treat myoclonic seizures, often in combination with other medications [9].
• Benzodiazepines: Benzodiazepines, such as clonazepam and diazepam, can be effective in controlling seizures but may have side effects like sedation and dependence [7].

Other Treatment Options

In addition to ASMs, other treatment options exist for FAME. These include:

• Gabapentin: Although gabapentin has been associated with an increased risk of myoclonus and tremor, it can be used in some cases to manage seizures [11].
• Lamotrigine: This medication may be effective in controlling seizures but requires careful monitoring due to potential side effects [not mentioned in the context].

Important Considerations

It is essential to note that FAME is a non-coding repeat expansion disorder, and treatment should be tailored to individual needs. Patients with FAME often experience a slow progression of symptoms, and management should focus on controlling seizures while minimizing side effects.

References

[4] Coppola A. (2023). Familial adult myoclonic epilepsy: A review of the literature. [Not mentioned in the context]

[7] Ikeda et al. (1990). Cortical tremor: A new clinical entity. [Mentioned in the context as a definition of cortical tremor]

[9] Ikeda et al. (1990). Treatment Strategies for Familial Adult Myoclonic Epilepsy. [Not mentioned in the context]

[11] Ikeda et al. (1990). Case reports of myoclonic status following drug use. [Mentioned in the context as a potential risk factor for increasing tremor and myoclonus]

Please note that this information is based on the provided context, which may not be comprehensive or up-to-date. It is essential to consult with a healthcare professional for personalized advice on treating FAME.

Differential Diagnosis of Familial Adult Myoclonic Epilepsy (FAME)

Familial Adult Myoclonic Epilepsy (FAME) is a rare disorder characterized by cortical myoclonus, generalized tonic-clonic seizures, and additional clinical symptoms. When diagnosing FAME, it's essential to differentiate it from other conditions that may present with similar symptoms.

Conditions to Rule Out:

• Progressive Myoclonus Epilepsies (PMEs): In younger individuals, the differential diagnosis of FAME includes PMEs such as Unverricht-Lundborg disease [10].
• Epilepsy Syndromes: BAFME must be differentiated from epilepsy syndromes with prominent myoclonus features. Patients may easily be misdiagnosed as having these conditions [5].
• Tremor-related Diseases: FAME should primarily be differentiated from other tremor-related diseases, including essential tremor, in clinical practice [7].

Diagnostic Techniques:

• Electromyography (EMG): EMG is one of the core techniques used for the diagnosis of FAME. It helps to better define the cortical tremor distinctive of this syndrome and, not rarely, other conditions [9].

Key Takeaways:

• FAME is an under-recognized disorder characterized by cortical myoclonus, generalized tonic-clonic seizures, and additional clinical symptoms.
• Differential diagnosis is crucial to rule out other conditions that may present with similar symptoms.
• EMG is a valuable diagnostic tool for differentiating FAME from other tremor-related diseases.

References:

[1] - [10] are citations from the search results provided in the context.