Baltic Myoclonus Epilepsies refer to a group of rare genetic neurological disorders characterized by the presence of myoclonus and seizures. Myoclonus refers to sudden, brief, and involuntary muscle jerks that may affect various parts of the body, including the arms, legs, face, or trunk. These myoclonic jerks may occur sporadically or in clusters and can range in severity from mild to severe.
The term "Baltic" in Baltic Myoclonus Epilepsies signifies that these disorders were initially identified in populations of Baltic origin, particularly in countries like Lithuania, Latvia, and Estonia. Baltic Myoclonus Epilepsies encompass several distinct subtypes, including Unverricht-Lundborg disease (ULD), Lafora disease (LD), and neuronal ceroid lipofuscinoses (NCLs).
In addition to myoclonus, individuals with Baltic Myoclonus Epilepsies may also experience different types of seizures, including generalized tonic-clonic seizures, absence seizures, or focal seizures. These seizures can further contribute to the overall neurological impairment observed in affected individuals. The age of onset, clinical course, and severity of symptoms may vary depending on the specific subtype.
Baltic Myoclonus Epilepsies are known to be caused by mutations in various genes involved in the regulation and function of nerve cells in the brain. These genetic defects disrupt normal cellular processes, leading to the characteristic symptoms and clinical manifestations associated with these disorders. Diagnosis of Baltic Myoclonus Epilepsies typically involves a combination of clinical evaluation, electroencephalography (EEG) to detect abnormal electrical brain activity, and genetic testing to confirm the presence of specific gene mutations.
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