familial adult myoclonic epilepsy 4

Familial Adult Myoclonic Epilepsy (FAME) 4, also known as Cortical Myoclonic Tremor with Epilepsy, FAMILIAL, 4; FAME4, is a rare autosomal dominant disorder characterized by:

• Cortical myoclonic tremor: A type of tremor that affects the hands and fingers, often triggered by action or posture.
• Myoclonus: Sudden, brief muscle contractions that can affect various parts of the body.
• Epilepsy: Infrequent generalized tonic-clonic seizures (GTCS) and/or myoclonic seizures.

This condition typically starts in the second to third decade of life, with a non-progressive or slowly progressive clinical course. The genetic variant underlying FAME 4 is an intronic repeat expansion composed of two different pentamers: an expanded TTTTA motif and an insertion of TTTCA repeats.

According to medical literature [13][14], the main symptoms of FAME 4 include:

• Giant somatosensory evoked potentials
• Long latency reflex
• Cortical myoclonic tremor

FAME 4 is a rare condition, with over a hundred pedigrees reported worldwide since its first description in 1985 [12].

Familial adult myoclonic epilepsy (FAME) is a complex condition that requires a comprehensive diagnostic approach. Based on the search results, here are some diagnostic tests and approaches that may be relevant for FAME:

• Electrophysiological investigations: These include EEG, EMG, and SEPs, which are essential for the diagnostic work-up of FAME [7]. EEG background is usually normal in FAME patients [7].
• Genetic testing: Exome or genome sequencing are such as Epilepsy Gene Panel, Chromosome Microarray, Whole Exome Sequencing, Targeted Testing may be recommended first-line tests for people with epilepsy, including those suspected of having FAME [4][5]. However, the noncoding repeat expansions responsible for FAME are not detected by routine genetic tests used at this time [15].
• Clinical findings and electrophysiological examinations: These are important in the diagnosis of FAME [9]. Performing neuropsychological tests to evaluate the presence of cognitive deterioration may also be helpful in confirming FAME cases [10].
• Whole exome sequencing followed by pentamer repeat examinations: This approach may be used to confirm FAME cases, especially when clinical findings and electrophysiological examinations are suggestive of the condition [10][12].

It's worth noting that the diagnostic criteria for FAME have evolved over time. The original BAFME criteria-1 included cortical tremor and infrequent generalized seizures, autosomal dominant inheritance, lack of cognitive decline and other neurological symptoms, electrophysiological findings of cortical reflex myoclonus, and lack of clear clinical progression [13].

References:

[4] Exome or genome sequencing are the recommended first-line tests for people with epilepsy.4 [5] Historically, many clinicians have sent gene panels, which sequence ... [7] by I Lagorio · 2019 · Cited by 29 — Electrophysiological investigations, in particular EEG, EMG and SEPs, are essential for the diagnostic work-up of FAME. [9] by GA UZUN · 2022 · Cited by 3 — Clinical findings and electrophysiological examinations are important in the diagnosis. • Pentameric repeat expansions play an essential role in patients with ... [10] Familial Adult Myoclonus Epilepsy (FAME) is an autosomal dominant condition characterized by the association of myoclonic tremor and epilepsy mainly with onset in adulthood. [12] Clinical resource with information about Epilepsy familial adult myoclonic 4 and its clinical features, YEATS2, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB [13] Background. The clinical diagnostic criteria for benign adult familial myoclonus epilepsy (BAFME) originally included (1) cortical tremor and infrequent generalized seizures, (2) autosomal dominant inheritance, (3) lack of cognitive decline and other neurological symptoms, (4) electrophysiological findings of cortical reflex myoclonus, and (5) lack of clear clinical progression (BAFME criteria-1).

Treatment Options for Familial Adult Myoclonic Epilepsy (FAME)

The therapeutic management of FAME is essentially symptomatic and based on antiseizure medications (ASMs) that are effective on seizures while not affecting the underlying cause of the condition. According to recent studies, there is neither a curative nor

Differential Diagnosis of Familial Adult Myoclonic Epilepsy

Familial adult myoclonic epilepsy (FAME) is an under-recognized disorder that requires careful differential diagnosis to rule out other conditions with similar symptoms. The following are some of the key differential diagnoses for FAME:

• Progressive Myoclonus Epilepsies (PMEs): PMEs, such as Unverricht-Lundborg disease, are a group of rare genetic disorders characterized by myoclonic seizures and progressive neurological deterioration [14]. These conditions can be distinguished from FAME by their more severe clinical course and the presence of other systemic features.
• Essential Tremor: Essential tremor is a common movement disorder that can present with tremors, but it does not typically involve myoclonus or seizures. The differential diagnosis between essential tremor and FAME requires careful evaluation of the patient's symptoms and neurological examination [12].
• Genetic Generalized Epilepsies: Genetic generalized epilepsies, such as juvenile myoclonic epilepsy (JME), can present with myoclonic seizures and other seizure types. However, JME typically has a more severe clinical course than FAME and is often associated with other systemic features [13].
• Progressive Myoclonus Epilepsies: Progressive myoclonus epilepsies, such as Lafora disease, are rare genetic disorders characterized by myoclonic seizures and progressive neurological deterioration. These conditions can be distinguished from FAME by their more severe clinical course and the presence of other systemic features [9].

It's essential to note that the differential diagnosis for FAME is complex and requires careful evaluation of the patient's symptoms, medical history, and neurological examination. A thorough diagnostic workup, including genetic testing and neuroimaging studies, may be necessary to rule out these conditions and establish a definitive diagnosis.

References:

[9] by I Lagorio · 2019 · Cited by 29 — Familial Adult Myoclonic Epilepsy is mainly characterized by cortical tremor, myoclonus, and occasional tonic-clonic seizures. Cortical tremor, the most ...

[12] 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.

[13] Familial Adult Myoclonus Epilepsy (FAME), with a prevalence of < 1/35 000, is known under different acronyms. The disease is transmitted in an autosomal dominant manner and is characterized by the occurrence of cortical myoclonic tremor, overt myoclonus, and rare bilateral tonic–clonic seizures.

[14] Feb 26, 2024 — In younger individuals, the differential diagnosis includes progressive myoclonus epilepsies (PMEs), such as Unverricht-Lundborg disease, ...