[…] due to KV3.1 deficiency Progressive myoclonus epilepsy type 7 Prevalence: 1 / 1 000 000 Inheritance: Autosomal dominant Age of onset: Childhood ICD-10: G40.3 OMIM: 616187 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]

 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]

This disease presents no sex-related differences and it is predominantly found in southern European countries. [elsevier.es]

During the 20th century, many conditions were gradually added to the list of diseases that present as progressive myoclonus epilepsy, and most have been clearly clinically and genetically defined in the last 20 years. [medlink.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]

• 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]

  ORPHA:435438 Classification level: Disorder Synonym(s): EPM7 MEAK Myoclonus epilepsy and ataxia due to potassium channel mutation PME type 7 Progressive myoclonic epilepsy due to KV3.1 deficiency Progressive myoclonus epilepsy type 7 Prevalence: 1 / 1 [orpha.net]

  […] to Progressive Myoclonus Epilepsy 7: # Title Authors PMID Year 1 Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p.Arg320His mutation. 61 Kim H...Lim BC 29428275 2018 2 Myoclonus epilepsy and ataxia [malacards.org]

  Heritability: Autosomal dominant inheritance Clinical Modifiers: Progressive AKA: progressive myoclonus epilepsy type 7, progressive myoclonic epilepsy due to KV3.1 deficiency, meak, KCNC1 progressive myoclonic epilepsy, EPM7, myoclonus epilepsy and ataxia [monarchinitiative.org]

  Also known as: EPM7, MEAK, Myoclonus epilepsy and ataxia due to potassium channel mutation, PME type 7, Progressive myoclonic epilepsy due to KV3.1 deficiency, Progressive myoclonus epilepsy type 7 Clinical Healthcare providers that have indicated some [rarediseases.oscar.ncsu.edu]

• Drop Attacks

  Myoclonic seizures begin in early childhood, and patients exhibit multiple seizure types including: generalized tonic clonic seizures, absence seizures, and drop attacks. [preventiongenetics.com]

   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]

  Patients 1, 2, 4 and 7 had drop attacks beginning around the age of 13 or 14 years. Generalized tonic clonic seizures were documented in all except Patient 2. [academic.oup.com]

• 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]

  These seizures can be mistaken for tics, tremors or clumsiness. How are myoclonic seizures diagnosed? The seizures themselves are easy to identify. The syndromes usually can be diagnosed on the basis of the medical history and often an EEG test. [epilepsy.com]

• 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]

DIAGNOSTIC WORKUP In the initial stage of Ohtahara syndrome, interictal EEG shows a pattern of suppression-burst with high-voltage paroxysmal discharges separated by prolonged periods of nearly flat tracing that last for up to 18 seconds. [europeana.eu]

• Cytoplasmic Inclusion Bodies

  뇌와 피부의 조직검사에서 ceroid와 lipofuscin에 동시에 조직화학적 양성반응를 보이며 autofluorescent를 보이는 세포질봉입체 (cytoplasmic inclusion body) 을 관찰할 수 있습니다. 뇌자기공명영상에서 백질의 미만성 고강도 신호 (diffuse hyperintensity)가 T2 강조 영상에서 관찰되기도 합니다. [www.mediup.co.kr]

  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]

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]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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]

Lamotrigine was noted as an effective treatment for infantile and juvenile neuronal ceroid lipofuscinosis. [statpearls.com]

PROGNOSIS AND THREATMENT Half of the reported children having Ohtahara syndrome die in infancy. Anticonvulsant helps little in controlling the seizures and halting the deterioration of psychomotor development. [europeana.eu]

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]

 The prognosis is very poor; death occurring at an average of 4–6 years after the onset. 49. [slideshare.net]

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]

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]

Despite increasing knowledge of the etiology of most progressive myoclonus epilepsy disorders, the pathogenic mechanisms leading to neurodegeneration and epilepsy remain largely unknown. • Histological and/or genetic studies are frequently required to [medlink.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]

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. [en.wikipedia.org]

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]

Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Pediatr Endocrinol Rev 2014; 12 (Suppl. 01) 72-81 37 Park JK, Orvisky E, Tayebi N, et al. [thieme-connect.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]

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]

As a result, laforin or malin deficiency would prevent digestion of polyglucosans and result in their accumulation (Figure 5B).[16] Figure 5. Two recent theories of the pathogenesis of Lafora bodies. [medscape.com]

Supplemental Content Recent activity Clear Turn Off Turn On Treatment and prevention of herpes labialis Treatment and prevention of herpes labialis Canadian Family Physician. 2008 Dec; 54(12)1683 Struma ovarii: management and follow-up of a rare ovarian [ncbi.nlm.nih.gov]