Edit concept Question Editor Create issue ticket

Progressive Myoclonic Epilepsy Type 7

MEAK


Presentation

  • .  Visual seizures present as transient blindness, simple or complex visual hallucinations.  Myoclonus is often fragmentary, asymmetric, arrhythmic, and progressively disabling. 7.  Presence of optic atrophy and retinal degeneration has been documented[slideshare.net]
  • In addition, in this case, we reported a special case of LINCL as one form of the most fatal PME, to present some special EEG characteristics in details.[journals.lww.com]
  • This disease presents no sex-related differences and it is predominantly found in southern European countries.[elsevier.es]
  • The accumulation (storage) of these metabolites occurs because an essential enzyme, needed to further metabolize the accumulated chemicals, is not present or is present in insufficient concentration.[rarediseases.org]
  • In this paper we present a case, who presented with treatment-resistant seizures and progressive mental failure and was finally diagnosed as Lafora Body disease. 2.[pubs.sciepub.com]
Coarse Facial Features
  • .  Clinical features include coarse facial features, corneal clouding, hepatomegaly, skeletal dysplasia, and learning disability in addition to the myoclonus. 36.  EEG background shows low-voltage fast activity, but slowing can be seen in patients with[slideshare.net]
Pathologist
  • , general pathologists, neurologists, and geneticists in deciphering the pathology and pathogenesis of these complex disorders affecting the nervous system of the embryo, fetus, and child.[books.google.de]
Psychiatric Symptoms
  • Dentatorubral-pallidoluysian atrophy  Rare autosomal-dominant neurodegenerative disorder, characterised by various combinations of cerebellar ataxia, choreoathetosis, myoclonus, epilepsy, dementia, and psychiatric symptoms.  Three clinical forms: an[slideshare.net]
Onset at Age <20
  • .  Patients with onset before age 20 years often present with the phenotype of PME, characterised by ataxia, seizures, myoclonus, and progressive intellectual deterioration. 39.  caused by unstable expansion of CAG repeats of a gene at 12p13.31.  MRI[slideshare.net]
Ataxia
  • Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome  age of onset with ataxia at 4–5 years.  Myoclonus starts at 5–10 years with a mean at 7 years.  Impaired up-gaze.  The intellect is usually preserved an neuroimaging studies are normal[slideshare.net]
  • Paulson’s research and clinical interests concern the causes and treatment of age-related neurodegenerative diseases, with a focus on hereditary ataxias, polyglutamine diseases, and frontotemporal dementia. Dr.[books.google.de]
  • […] type 12 Spinocerebellar ataxia type 13 Spinocerebellar ataxia type 14 Spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 17 Spinocerebellar ataxia type 18 Spinocerebellar ataxia type 19/22 Spinocerebellar ataxia type 2 Spinocerebellar ataxia[se-atlas.de]
  • , mental retardation and electrolyte imbalance, Epilepsy, ataxia, sensorineural deafness and tubulopathy, EAST syndrome, Seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance, Seizures-sensorineural deafness-ataxia-intellectual[rarediseases.info.nih.gov]
  • Ankyrin-B (N105/13, N105/17) LONG QT SYNDROME 4 CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED Ataxin-1 (N76/3, N76/8) SPINOCEREBELLAR ATAXIA 1 CASK (K56A/50) MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA FG SYNDROME 4 MENTAL RETARDATION[neuromab.ucdavis.edu]
Drop Attacks
  • .  Characteristically, visual seizures are the first manifestation, followed by generalized tonic–clonic seizures, absences, or drop attacks.  Visual seizures present as transient blindness, simple or complex visual hallucinations.  Myoclonus is often[slideshare.net]
Clumsiness
  • Late infantile Finnish variant NCL  A variant of late infantile NCL  Onset is later, at around age 5 years, and includes symptoms of clumsiness and hypotonia.  Followed by visual impairment : 5–7 years, ataxia : 7–10 years, Myoclonic and tonic-clonic[slideshare.net]
Psychomotor Regression
  • .  Within a few months, ataxia and psychomotor regression appear, whereas visual failure develops later.  Dementia and spasticity are relentlessly progressive, with death occurring about 5 years after onset. 14.  EEG - posterior spikes in response[slideshare.net]

Workup

Cytoplasmic Inclusion Bodies
  • Lafora Body Disease  The characteristics of LBD include:  generalized tonic–clonic seizures (GTCS),  resting and action myoclonus,  ataxia,  dementia,  polyspike and wave discharges in the electroencephalogram (EEG)  basophilic cytoplasmic inclusion[slideshare.net]

Treatment

  • Brand-new chapters in the drug and diet section cover perampanel, ezogabine, and lacosamide, while the existing chapters on major medical treatments have been comprehensively updated to reflect the latest trials and studies.[books.google.de]
  • Treatment  Replacement therapy with high doses of exogenous enzyme, may halt or even reverse neurological progression although the outcome is not always favorable. 45.[slideshare.net]
  • Paulson’s research and clinical interests concern the causes and treatment of age-related neurodegenerative diseases, with a focus on hereditary ataxias, polyglutamine diseases, and frontotemporal dementia. Dr.[books.google.de]
  • Treatment-emergent adverse events affecting 10% of patients in the pivotal studies were dizziness, headache and somnolence.[ots.at]
  • It is still unclear how piracetam treatment exerts its antimyoclonic effect.[jamanetwork.com]

Prognosis

  • .  The prognosis is very poor; death occurring at an average of 4–6 years after the onset. 49.[slideshare.net]
  • However, the female patient has a poor prognosis. In the following visit, she has serious sleep problems, such as sleep fragment and insomnia due to her sensitivity to the light and voice.[journals.lww.com]
  • In patients with Unverricht-Lundborg disease or with mitochondrial encephalomyopathy with ragged red fibers the prognosis is slightly better but highly variable. 20 Though the prognosis in PME remains poor, progression is nowadays much slower and life[jamanetwork.com]
  • LD has an unfavorable prognosis, and patients usually die within 10 years of the clinical findings at onset. 4.[pubs.sciepub.com]
  • Indeed, the use of PHT has been proposed as an explanation for the poor prognosis of ULD described in the early series reports from Baltic region [ 56 ].[ncbi.nlm.nih.gov]

Etiology

  • Recently, PMEs have been recognized as a group of syndromes with specific etiologies. However, few studies demonstrated the EEG changes in PME in details.[journals.lww.com]
  • 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]
  • Limited efficacy of levetiracetam on myoclonus of different etiologies. Parkinsonism Relat Disord. 2005; 11 :135–7. [ PubMed ] [ Google Scholar ] 36. Mancuso M, Galli R, Pizzanelli C, Filosto M, Siciliano G, Murri L.[ncbi.nlm.nih.gov]

Epidemiology

  • From basic mechanisms and epidemiology, through diagnosis and therapy, to quality of life issues, the new edition of this established reference covers every aspect of childhood epilepsy and will continue to be the definitive core text for all professionals[books.google.de]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • But recognizing the phenomenology and understanding the pathophysiology are essential to ensure appropriate treatment. Hyperkinetic Movement Disorders provides a clinical pathway for effective diagnosis and management of these disorders.[books.google.de]
  • Impaired attention, genetics, and the pathophysiology of schizophrenia. ‎[books.google.ro]
  • 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]
  • Our results indicate that the changes in both the thalamus and putamen may play an important role in the pathophysiology of EPM1. Further studies in larger patient materials will show whether 3D TA could be a relevant tool for clinical applications.[journals.plos.org]

Prevention

  • Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎[books.google.es]
  • Mutations in the EPM2A gene prevent cells from making functional laforin, while NHLRC1 gene mutations prevent the production of functional malin. It is unclear how a loss of either of these proteins leads to the formation of Lafora bodies.[ghr.nlm.nih.gov]
  • May be involved in the control of glycogen metabolism, particularly in monitoring for and preventing the formation of poorly branched glycogen molecules (polyglucosans).[mybiosource.com]
  • To prevent worsening of myoclonus carbamazepine, phenytoin, gabapentin, pregabalin and lamotrigine should be avoided.[pubs.sciepub.com]
  • […] indicated as adjunctive therapy in adults with partial-onset seizures with or without secondary generalisation.1 Zebinix is a novel, once-daily, voltage-gated sodium channel blocker.[5],[6] It preferably targets the inactivated state of the ion channel, preventing[ots.at]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!