familial adult myoclonic epilepsy 3

Familial Adult Myoclonic Epilepsy (FAME) Description

Familial Adult Myoclonic Epilepsy (FAME) is an autosomal dominant disease characterized by cortical tremor, myoclonus and epileptic seizures [3]. This condition is inherited in a dominant pattern, meaning that only one copy of the mutated gene is needed to develop the disorder.

Key Features:

• Cortical tremor
• Myoclonus (sudden muscle contractions)
• Epileptic seizures

FAME is a rare genetic disorder that affects adults. The symptoms can vary in severity and may include:

• Tremors or shaking of the hands or other body parts
• Sudden muscle contractions or myoclonic jerks
• Rare convulsive seizures

It's essential to consult with a healthcare professional for an accurate diagnosis and treatment plan.

References:

[3] GA Uzun · 2023 · Cited by 3 — Familial Adult Myoclonic Epilepsy (FAME) is an autosomal dominant disease characterized by cortical tremor, myoclonus and epileptic seizures.

Based on the provided context, here are the signs and symptoms of Familial Adult Myoclonic Epilepsy (FAME):

• Cortical hand tremors: This is a characteristic feature of FAME, where individuals experience tremors in their hands.
• Myoclonic jerks: Sudden, brief muscle contractions or jerks are common in people with FAME.
• Occasional tonic-clonic seizures: While not as frequent as myoclonic jerks and cortical hand tremors, some individuals may experience tonic-clonic seizures.

These symptoms can occur in adulthood, and the condition is characterized by a non-progressive or slowly progressive clinical course. With appropriate antiseizure medication, epilepsy can be commonly controlled, and individuals with FAME can lead normal lives.

References: * [3] describes cortical hand tremors as a characteristic feature of BAFME (Benign Adult Familial Myoclonic Epilepsy), which is another name for FAME. * [11] mentions cortical hand tremors, myoclonic jerks, and convulsive seizures as features of FAME. * [13] describes the clinical course of FAME as non-progressive or slowly progressive.

Treatment Options for Familial Adult Myoclonic Epilepsy

The therapeutic management of Familial Adult Myoclonic Epilepsy (FAME) is essentially symptomatic and based on antiseizure medications (ASMs). These medications are effective in controlling seizures, but there is no cure for the condition.

Antiseizure Medications (ASMs)

• Clonazepam is the only drug approved by the US Food and Drug Administration as monotherapy for the treatment of myoclonic seizures [4].
• Valproate and some benzodiazepines are widely used to treat myoclonic seizures [9].

Other Treatment Options

While there is no cure for FAME, comprehensive rehabilitation treatment and management of symptoms can improve quality of life. This may include physical therapy, occupational therapy, and speech therapy to address any related motor or cognitive impairments.

Current Research and Future Directions

Research into the causes and treatment of FAME continues, with a focus on developing more effective treatments for this condition. However, as of now, there is no current cure for PME [7].

Differential Diagnoses for Familial Adult Myoclonic Epilepsy (FAME)

Familial Adult Myoclonic Epilepsy (FAME) is a rare autosomal dominant disorder characterized by cortical tremor, myoclonus, and occasional tonic-clonic seizures. When diagnosing FAME, it's essential to consider the following differential diagnoses:

• Progressive Myoclonus Epilepsies (PMEs): These include conditions such as Unverricht-Lundborg disease, which can present with similar symptoms like myoclonus and seizures.
• Juvenile Myoclonic Epilepsy (JME): This is another type of epilepsy that can cause myoclonic seizures, especially in younger individuals. However, JME typically presents at a younger age than FAME.
• Essential Tremor: While not directly related to epilepsy, essential tremor can sometimes be misdiagnosed as FAME due to the presence of tremors and myoclonus.

Key Points to Consider

When differentiating FAME from these conditions, consider the following:

• Age of onset: FAME typically presents in adulthood, whereas JME and PMEs often present at a younger age.
• Type of seizures: While all three conditions can cause myoclonic seizures, FAME is more likely to involve tonic-clonic seizures as well.
• Genetic testing: Genetic analysis can help confirm the diagnosis of FAME by identifying the specific genetic variant responsible for the condition.

References

• [3] Familial Adult Myoclonus 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.
• [11] Familial adult myoclonic epilepsy (FAME) is a rare autosomal dominant disorder characterized by myoclonus and seizures. The genetic variant underlying FAME is an intronic repeat expansion composed of two different pentamers: an expanded TTTTA, which is the motif originally present at the locus, and an insertion of TTTCA repeats, which is usually located at the 3′ end and likely corresponds ...
• [13] Familial Adult Myoclonus Epilepsy (FAME), with a prevalence of < 1/35 000, is known under different acronyms. ... in patients from isolated pedigrees. The differential diagnosis includes essential tremor, some forms of genetic generalized epilepsy, and progressive myoclonus epilepsies.