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Eyelid myoclonia with or without absences is a form of epileptic seizure manifesting with myoclonic jerks of the eyelids with or without a brief absence. These are mainly precipitated by closing of the eyes and lights. [1] [2] Eyelid myoclonia is the defining seizure type of Jeavons syndrome. [3]
These myoclonic twitches, jerks, or seizures are usually caused by sudden muscle contractions (positive myoclonus) or brief lapses of contraction (negative myoclonus). The most common circumstance under which they occur is while falling asleep (hypnic jerk). Myoclonic jerks occur in healthy people and are experienced occasionally by everyone.
When they are particularly frequent and severe, hypnic jerks have been reported as a cause of sleep-onset insomnia. [3] Hypnic jerks are common physiological phenomena. [5] Around 70% of people experience them at least once in their lives with 10% experiencing them daily. [6] [7] They are benign and do not cause any neurological sequelae. [7]
The 2023 edition of ICD-10-CM F78.A1 became effective on October 1, 2022. This is the American ICD-10-CM version of F78.A1 - other international versions of ICD-10 F78.A1 may differ. On August 11, 2021, SYNGAP1 -related Disorders was included in the Social Security Administration list of diseases for Compassionate Use .
Myoclonus is usually classified physiologically to optimize treatment. Myoclonus is a precursor effect to myoclonus dystonia and most commonly begins in childhood or adolescence. [4] [5] Myoclonus is classified as cortical, subcortical, peripheral or spinal. Cortical myoclonus is the most common of these four and affects the upper limbs and face.
If the abnormal brain wave activity is persistent and results from ongoing seizures, then a diagnosis of myoclonic epilepsy may be considered. [1] Familial adult myoclonus Epilepsy (FAME) This is a condition characterized by the repetition of non-coding sequences and has been identified using various abbreviations. Initially, it was associated ...
The majority of patients (58.2%) have frequent myoclonic jerks, [13] with some sources stating that all patients with JME have myoclonic seizures. [10] Generalized tonic–clonic seizures are less common [13] but still reported in 85–90%. [10] Absence seizures are believed to be least common, with an estimated prevalence between 10% and 40%.
Neurologic signs including: blurred vision, headaches, focal seizures, myoclonic jerking, reversible paralysis [6] Motor abnormalities including flaccidity, depressed reflexes, tremors or fasciculations; Hyperviscosity and increased risk of blood clot formation; Dehydration [6] Weight loss [6] Nausea, vomiting, and abdominal pain [6] Weakness [6]