familial adult myoclonic epilepsy 2

Familial adult myoclonic epilepsy-2 (FAME2) is an autosomal dominant neurologic disorder characterized by the onset of tremors affecting the fingers, hand, and voice in adolescence or young adulthood. This condition is also associated with the later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures.

The symptoms of FAME2 typically begin in late adolescence or early adulthood, with a gradual progression of symptoms over time. The tremors can be quite pronounced, affecting not only the fingers and hand but also the voice. In addition to these motor symptoms, individuals with FAME2 may experience myoclonic jerks, which are sudden, brief muscle contractions.

Generalized tonic-clonic seizures, which involve both motor and sensory components, can also occur in individuals with FAME2. These seizures typically start later than the tremors and myoclonic jerks.

It's worth noting that FAME2 is a rare condition, and its exact prevalence is not well established. However, it is considered to be an autosomal dominant disorder, meaning that a single copy of the mutated gene is sufficient to cause the condition.

References:

• [1] Familial adult myoclonic epilepsy-2 (FAME2) is an autosomal dominant neurologic disorder characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures. Electrophysiologic studies are consistent with cortical reflex myoclonus. (Source: [1])
• [2] Familial adult myoclonic epilepsy-2 (FAME2) is an autosomal dominant neurologic disorder characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures. ... For a phenotypic description and a discussion of FAME2, see [10]. (Source: [10])
• [3] Familial adult myoclonus epilepsy (FAME) is an autosomal dominant condition characterized by the association of myoclonic tremor and epilepsy mainly with onset in adulthood. The clinical course is non-progressive or slowly progressive, as epilepsy is commonly controlled with appropriate antiseizure medication and individuals have a normal life expectancy. (Source: [13])
• [4] Familial adult myoclonus 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 to a pathogenic allele. (Source: [14])

Familial Adult Myoclonic Epilepsy 2 (FAME2) is a rare genetic disorder characterized by a range of symptoms, including:

• Cortical tremor: A type of tremor that affects the fingers, hand, and voice, typically starting in adolescence or young adulthood [1].
• Myoclonic seizures: Sudden, brief muscle contractions that can affect various parts of the body, such as the neck, shoulders, upper arms, and face. These seizures can be quite strong and difficult to control [3].
• Generalized tonic-clonic seizures: Rarely, individuals with FAME2 may experience generalized tonic-clonic seizures, which involve convulsions that affect the entire body [5].

Other symptoms associated with FAME2 include:

• Cortical hand tremors: A type of tremor that affects the hands and is often one of the first signs of the disorder [2].
• Myoclonic jerks: Sudden, brief muscle contractions that can affect various parts of the body [6].

It's essential to note that FAME2 is a rare condition, and not all individuals with the disorder will experience all of these symptoms. If you or someone you know is experiencing any of these symptoms, it's crucial to consult with a healthcare professional for proper diagnosis and treatment.

References: [1] - Context result 4 [2] - Context result 4 [3] - Context result 7 [5] - Context result 5 [6] - Context result 7

Diagnostic Tests for Familial Adult Myoclonic Epilepsy 2 (FAME2)

Diagnosing FAME2 can be a complex process, and various diagnostic tests are employed to confirm the condition. Here are some of the key diagnostic tests used:

• Electrophysiological investigations: These include Electroencephalography (EEG), Electromyography (EMG), and Somatosensory Evoked Potentials (SEPs). These tests help evaluate the electrical activity in the brain, muscles, and nervous system [6][7].
• Genetic testing: Genetic testing can be performed to identify mutations in the gene responsible for FAME2. In this case, the gene encoding contactin 2 has been found to be responsible [1].
• Clinical evaluation: A thorough clinical evaluation is essential to diagnose FAME2. This includes a detailed medical history, physical examination, and assessment of symptoms such as tremor affecting the fingers, hand, and voice [9].

Diagnostic Yield

Genome sequencing has been shown to have a higher diagnostic yield than exome sequencing for FAME2 [3]. Genome sequencing covers the entire human genome, including noncoding regions, which can provide more comprehensive information about the genetic basis of the condition.

References

• [1] Gene encoding contactin 2 found to be responsible for FAME2.
• [3] Genome sequencing has a higher diagnostic yield than exome sequencing for FAME2.
• [6] Electrophysiological investigations, including EEG, EMG, and SEPs, are essential for the diagnostic work-up of FAME2.
• [7] EEG background may show similarities to other idiopathic generalized epilepsies or PMEs, with generalized spike–wave activity.
• [9] Familial adult myoclonic epilepsy-2 (FAME2) is an autosomal dominant neurologic disorder characterized by onset of tremor affecting the fingers, hand, and voice.

Treatment Options for Familial Adult Myoclonic Epilepsy (FAME) 2

The medical treatment of FAME patients is based on drugs with both anti-seizure and anti-myoclonic effects. According to various studies, the following medications are commonly used:

• Valproate: This medication is often considered a first-line treatment for FAME, as it has been shown to be effective in reducing seizures and myoclonus [11].
• Levetiracetam: Another commonly used medication, levetiracetam has been associated with benzodiazepines in the treatment of FAME patients [11].
• Benzodiazepines: These medications, such as clonazepam, have also been used to treat myoclonic seizures and tremors in FAME patients [6][13].

It's worth noting that while these medications can help manage symptoms, there is no cure for FAME. The choice of medication may depend on individual patient factors, such as the severity of symptoms and any potential side effects.

References:

• [11] Coppola A. Abnormal sensorimotor cortex and thalamo-cortical networks in familial adult myoclonic epilepsy type 2: Pathophysiology and treatment options.
• [6] by P Striano · 2012 · Cited by 34 — Valproate and some benzodiazepines are widely used to treat myoclonic seizures.
• [13] Familial Adult Myoclonic Epilepsy (FAME) is an autosomal dominant disease characterized by cortical tremor, myoclonus and epileptic seizures.