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Familial Progressive Myoclonic Epilepsy


Presentation

  • Based on the biochemical results and the genetic studies it is suggested that the family members with progressive familial myoclonic epilepsy present a combination of at least 2 hereditary defects.[ncbi.nlm.nih.gov]
  • We report here the clinical and anatomopathological features of two young brothers presenting with a progressive myoclonic epilepsy corresponding to type A of the disease according to Berkovic.[link.springer.com]
  • Immune etiologies : celiac disease (uncommon) Unverricht-Lundborg disease This disease is the commonest cause of progressive myoclonus epilepsy, presenting with seizures before 18 years of age.[epilepsydiagnosis.org]
  • Familial Kuf’s disease presenting as a progressive myoclonic epilepsy. J Neurol. 200;247:447-54. Ben-Menachem E, Kyllerman M, Marklund S. Superoxide dismutase and glutathione peroxidase function in progressive myoclonus epilepsies.[rarediseases.org]
Family History of Epilepsy
  • About a third of patients with JME have a positive family history of epilepsy. About 17-49% of patients with JME have relatives who have epileptic seizures, including parents (about 4%) and children (about 7%).[emedicine.medscape.com]
Myoclonic Jerking
  • jerk may precede or accompany the seizure Long seizures cause seconds of flaccid paralysis EEG: poly spike and wave or generalized spike and wave are associated with myoclonic jerks Focal Akinetic Seizure: Focal paresis precedes convulsive activity in[neurodiffdx.com]
  • Overview Benign adult familial myoclonic epilepsy is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks, and rare convulsive seizures.[medlink.com]
  • Myoclonic jerks may follow 1-9 years later, usually around the age of 15 years. GTCSs typically appear a few years later than myoclonic jerks.[emedicine.medscape.com]
  • It typically starts in childhood with myoclonic jerks and usually is seen in combination with mild dystonia (abnormal postures).[bcm.edu]
Aura
  • […] epilepsies (Autosomal Dominant Nocturnal Familial Frontal lobe Epilepsy) Familial Mesial Temporal lobe epilepsies Familial Lateral Temporal lobe Epilepsy - Autosomal Dominant Epilepsy with Auditory features (Familial Temporal Lobe Epilepsy with Auditory Auras[swedish.org]
  • […] involved Clonic Seizures Similar to GTCS Rhythmic or semi-rhythmic contractions of a group of muscles Jerks can involve any group of muscles: arm, face legs Atonic Seizures: Begin in the late infancy; may start in adolescence Sudden loss of muscle tone; no aura[neurodiffdx.com]
  • Delasiauve (1854), Reynolds (1861), Féré (1890), Binswanger (1899), and Gowers (1902) described sudden starts or jerks as expressions of motor prodromes, auras, or abortive seizures ( petit mal moteur ) in their monographs on epilepsy.[neupsykey.com]
  • […] lipofuscinosis, neuronal, Spinocerebellar ataxia ATP1A2 Alternating hemiplegia of childhood, Migraine, familial hemiplegic ATP1A3 Alternating hemiplegia of childhood CACNA1A Episodic ataxia, Migraine, familial hemiplegic KCNK18 Migraine, with or without aura[genda.com.ar]
Abnormal Involuntary Movement
  • This volume focuses on Parkinsonism and dyskinesia, a condition characterized by abnormal involuntary movements.[books.google.de]

Workup

  • EEG is required to distinguish myoclonic seizures from nonictal causes of myoclonus, which can arise from lesions of the cortex, brainstem, spinal cord, or even peripheral nerve (see Workup).[emedicine.medscape.com]
3-4 Hz Spikes
  • Childhood absence epilepsy with tonicclonic seizures and electroencephalogram 3-4-Hz spike and multispikeslow wave complexes: linkage to chromosome 8q24. Am J Hum Genet. ‎[books.google.es]
Multifocal Spikes
  • Cortical myoclonus is more commonly encountered in a multifocal form, presenting with multifocal spike discharges. If myoclonus is triggered by stimuli, the term cortical reflex myoclonus is used.[neupsykey.com]

Treatment

  • In consequence of the biochemical findings combined treatment with A and E vitamins has been initiated.[ncbi.nlm.nih.gov]
  • Organized into 18 chapters, this book first elucidates the problems, causes, pathology, brain neurotransmitter changes and receptors, depression, dementia, fluctuations of disability, and treatment of Parkinson's disease.[books.google.de]
  • Botulinum toxin treatment of facial myoclonus in suspected Rasmussen encephalitis. Mov Disord. 2006;21:1500-2. Caviness JN. Treatment of Myoclonus. Neurotherapeutics. 2014;11(1):188-200. Caviness JN, Brown P.[bcm.edu]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • Levetiracetam for the treatment of idiopathic generalized epilepsy with myoclonic seizures. Neurology 2008; 70:607–616. CrossRef PubMed Google Scholar 10. Magaudda A, Gelisse P, Genton P.[link.springer.com]

Prognosis

  • Prognosis The prognosis depends heavily on the underlying etiology and the epilepsy syndrome. Patients with a benign syndrome typically respond well to medication and may outgrow their epilepsy.[emedicine.medscape.com]
  • .  The prognosis is very poor; death occurring at an average of 4–6 years after the onset. 49.[slideshare.net]
  • Opsoclonus-myoclonus syndrome: a new era of improved prognosis? Pediatr Neurol. 2017;72:65-9. Jankovic, J. Therapeutic developments for tics and myoclonus. Mov Disord. 2015;30(11):8. Jankovic J, Shannon KM. Movement disorders.[bcm.edu]

Etiology

  • Etiology Seizures associated with early myoclonic encephalopathy can be due to a number of etiologies.[emedicine.medscape.com]
  • Metabolic etiologies : mitochondrial disorders (MERRF), neuronal ceroid lipofuscinosis, sialidosis.[epilepsydiagnosis.org]
  • Applicable To Drug-induced myoclonus Palatal myoclonus Use Additional Use Additional Help Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10data.com]
  • Epilepsy due to perinatal insults Epilepsy due to malformations of cortical development 4/16 Chandler Preston Chandler Epilepsy due to mitochondrial and metabolic disorders Benign neonatal seizures Breath holding spells 5/7 Chandler Amy Amy Cardiac etiologies[loyolamedicine.org]
  • Over the last two decades, considerable developments have occurred in the field of PMEs and they have been recognized as a group of syndromes with specific etiologies. 2 Macular cherry red spot is an important diagnostic marker in children with myoclonic[neurologyindia.com]

Epidemiology

  • Página 67 - Socioeconomic characteristics of childhood seizure disorders in the New Haven area: an epidemiologic study ‎ Página 67 - Epilepsy after penetrating head injury. I. Clinical correlates: a report of the Vietnam Head Injury Study.[books.google.es]
  • Epidemiology PME accounts for less than 1% of epilepsy cases at specialist centres. The incidence and prevalence of PME is unknown, but there are considerable geography and ethnic variations amongst the specific genetic disorders.[wikidoc.org]
  • Epidemiology [ edit ] PME accounts for less than 1% of epilepsy cases at specialist centres. [ citation needed ] The incidence and prevalence of PME is unknown, but there are considerable geography and ethnic variations amongst the specific genetic disorders[en.wikipedia.org]
  • Epidemiology The incidence of myoclonic epilepsy is approximately 1 case in 40,000 children. Typically, the onset of these disorders is during the first 3 years of life.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Impaired attention, genetics, and the pathophysiology of schizophrenia. ‎[books.google.es]
  • The nosology and pathophysiology of myoclonus. Mov Disord 1982:196–248. Google Scholar 2. Fahn S, Marsden CD, Van Woert MH. Definition and classification of myoclonus. Adv Neurol 1986; 43:1–5. PubMed Google Scholar 3. Nirenberg MJ, Frucht SJ.[link.springer.com]
  • However, because giant SEPs are not always present in patients with cortical reflex myoclonus (as in dentatorubral-pallidoluysian atrophy [DRPLA]), some other pathophysiologic mechanisms may exist. FIGURE 4.[neupsykey.com]
  • Pathophysiology Myoclonic seizures are generally the product of hypersynchronous, generalized cortical discharges. These discharges arise from hyperexcitable neuronal networks.[emedicine.medscape.com]
  • Migraine and epilepsy: a focus on overlapping clinical, pathophysiological, molecular, and therapeutic aspects. Curr Pain Headache Rep 2010; 14 (4) 276-283 152 Silberstein SD, Dodick DW. Migraine genetics: Part II.[thieme-connect.com]

Prevention

  • Hospital for Sick Children Health A-Z Search a complete list of child health articles expand_more View All Drug A-Z Search a list of articles about medications expand_more View All Learning Hubs Browse a complete list of content groups Healthy Living & Prevention[aboutkidshealth.ca]
  • This medication is directly injected into the muscles causing the involuntary jerks at relatively low doses, allowing for relaxation of the muscles, thus preventing the spasms.[bcm.edu]

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