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

[…] progressive myoclonus epilepsy PME type 6 Progressive myoclonus epilepsy type 6 Prevalence: Inheritance: Autosomal recessive Age of onset: Childhood ICD-10: G40.3 OMIM: 614018 UMLS: - MeSH: - GARD: 3872 MedDRA: - The documents contained in this web site are presented [orpha.net]

The authors show that the function of the channel is actually reduced by 80% when the mutant channel is present in a 1:1 ratio with wildtype KCNC1. This is what you need to know. [epilepsygenetics.net]

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]

Two patients with adult variant of NCL presented with abnormal behavior and extrapyramidal features. [bioline.org.br]

• Epilepsy

  Moreover his work on establishing the syndromic diagnosis of epilepsies and the appropriate video-EEG methodology for their diagnosis, has been regarded by some as ground breaking and he is recognised as one the leading authorities on epilepsy. [books.google.com]

  […] the NCL and Progressive Myoclonic Epilepsy Panel ICD-10 Disease E75.4 Neuronal ceroid lipofuscinosis E75.4 Action myoclonus-renal failure syndrome G40.3 North Sea progressive myoclunus epilepsy G40.3 Spinal-muscular atrophy-progressive myoclonic epilepsy [blueprintgenetics.com]

  MalaCards based summary : Gosr2-Related Progressive Myoclonus Ataxia, also known as north sea progressive myoclonus epilepsy, is related to epilepsy, progressive myoclonic, 6 and epilepsy, and has symptoms including seizures, ataxia and absence seizures [malacards.org]

  ORPHA:280620 Synonym(s): EPM6 GOSR2-related progressive myoclonus ataxia North Sea progressive myoclonus epilepsy PME type 6 Progressive myoclonus epilepsy type 6 Prevalence: Inheritance: Autosomal recessive Age of onset: Childhood ICD-10: G40.3 OMIM: [orpha.net]

  […] atrophy Progressive myoclonic epilepsy Progressive myoclonic epilepsy type 3 Progressive myoclonic epilepsy type 5 Progressive myoclonic epilepsy type 6 Progressive myoclonic epilepsy with dystonia Proteus syndrome Rare epilepsy Rasmussen subacute encephalitis [se-atlas.de]

• Falling

  Soon she was falling many times a day, she became incapable of doing anything with her hands, and she became incapable of any intellectual effort. [globalgenes.org]

  Loud noises or sudden movements can trigger the myoclonus, which can be severe enough to cause falls. [epilepsy.org.uk]

  Tonic-clonic seizures have two phases: the tonic phase may last a few seconds and involves the muscles tensing, and may lead to the person falling down; the clonic phase involves a convulsion of rapidly alternating muscle tensing and relaxing. [en.wikipedia.org]

  Eine gezielte Panel Diagnostik, die 22 Gene mittels next generation sequencing umfasste, führte im Fall der Patientin zur raschen Identifikation der aller Wahrscheinlichkeit zugrundeliegenden neuen Mutation im EPM2A-Gen und somit zur Diagnosestellung. [2015.dgn2013.de]

  MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines. [mybiosource.com]

• Difficulty Walking

  walking Difficulty in walking 0002355 Dysarthria Difficulty articulating speech 0001260 Elevated serum creatine kinase Elevated blood creatine phosphokinase Elevated circulating creatine phosphokinase Elevated creatine kinase Elevated serum CPK Elevated [rarediseases.info.nih.gov]

  This is followed by worsening of the functioning of the brain and spinal cord, which causes severe epilepsy, difficulty walking, depression and dementia, and eventually leads to death. [kipdf.com]

• Muscle Rigidity

  Unsteadiness, muscle rigidity, and mental deterioration are often also present. Who gets it? This is a group of rare disorders. [epilepsy.com]

  Generalized tonic-clonic seizures (also known as grand mal seizures) affect the entire body, causing muscle rigidity, convulsions, and loss of consciousness. [ghr.nlm.nih.gov]

• Visual Hallucination

  Occipital seizures are characterised by simple visual hallucinations that are sometimes complex. These hallucinations are typical of Lafora disease. The onset of myoclonias coincides with progressive deterioration of cortical function and ataxia. [elsevier.es]

  Affected individuals may also experience occipital seizures, which can cause temporary blindness and visual hallucinations. Over time, the seizures worsen and become more difficult to treat. [ghr.nlm.nih.gov]

  Focal seizures are also seen and often have visual symptoms, including visual hallucinations, with EEG (electroencephalogram) discharges from the visual regions of the brain. Tonic seizures can also occur (whole body may become stiff). [epilepsy.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]

  Onset is characterised by the appearance of sporadic myoclonus, occipital lobe seizures (visual hallucinations, photoconvulsive seizures), and/or generalised seizures, with intervening insiduous behavioral changes and cognitive decline. [jmg.bmj.com]

• Myoclonus

  ORPHA:280620 Synonym(s): EPM6 GOSR2-related progressive myoclonus ataxia North Sea progressive myoclonus epilepsy PME type 6 Progressive myoclonus epilepsy type 6 Prevalence: Inheritance: Autosomal recessive Age of onset: Childhood ICD-10: G40.3 OMIM: [orpha.net]

  Title Other Names: EPM6; PME type 6; Progressive myoclonic epilepsy type 6; EPM6; PME type 6; Progressive myoclonic epilepsy type 6; North Sea progressive myoclonus epilepsy; Progressive myoclonus epilepsy type 6 See More Categories: This disease is grouped [rarediseases.info.nih.gov]

  MalaCards based summary : Gosr2-Related Progressive Myoclonus Ataxia, also known as north sea progressive myoclonus epilepsy, is related to epilepsy, progressive myoclonic, 6 and epilepsy, and has symptoms including seizures, ataxia and absence seizures [malacards.org]

  In the later stages of Lafora progressive myoclonus epilepsy, myoclonus often occurs continuously and affects the entire body. Several types of seizures commonly occur in people with Lafora progressive myoclonus epilepsy. [ghr.nlm.nih.gov]

  Progressive myoclonus epilepsy. National Pediatric Myoclonus Center. Division of Child Neurology. Southern Illinois Medical School, Springfield, IL: n.d.; n.p. REVIEW ARTICLES Delgado-Escueta AV, Ganesh S, Yamakawa K. [rarediseases.org]

• Ataxia

  MalaCards based summary : Gosr2-Related Progressive Myoclonus Ataxia, also known as north sea progressive myoclonus epilepsy, is related to epilepsy, progressive myoclonic, 6 and epilepsy, and has symptoms including seizures, ataxia and absence seizures [malacards.org]

  Homepage Rare diseases Search Search for a rare disease Progressive myoclonic epilepsy type 6 Disease definition A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated [orpha.net]

  PubMed is a searchable database of medical literature and lists journal articles that discuss GOSR2-related progressive myoclonus ataxia. Click on the link to view a sample search on this topic. [rarediseases.info.nih.gov]

  EA1 AEM EAM 160120 Genetic Test Registry Episodic Ataxia, Type 2 Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia Apca Ataxia, Episodic, With Nystagmus Ataxia, Familial Paroxysmal Cacna1a-Related Episodic Ataxia Type 2 Cerebellar Ataxia [ukgtn.nhs.uk]

  ataxia type 13, autosomal recessive GRM1 Spinocerebellar ataxia type 14, autosomal dominant PRKCG Spinocerebellar ataxia type 15 ITPR1 Spinocerebellar ataxia type 17, autosomal dominant TBP Spinocerebellar ataxia type 17, autosomal recessive CWF19L1 [centogene.com]

• Cerebellar Ataxia

  ataxia-epilepsy-intellectual disability syndrome Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency [se-atlas.de]

  CONCLUSIONS: This form of familial adult myoclonic epilepsy does not show linkage to either of the known familial adult myoclonic epilepsy loci, and is characterized in some members by frequent seizures, cerebellar ataxia, dementia, and progression of [scholar.sun.ac.za]

  The Unverricht-Lundborg types have a slower rate of progression than the Lafora myoclonic epilepsy, with onset at about age 10 years, variable severity of myoclonus, associated cerebellar ataxia, and milder mental symptoms, patients surviving for 15 years [pediatricneurologybriefs.com]

  EA1 AEM EAM 160120 Genetic Test Registry Episodic Ataxia, Type 2 Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia Apca Ataxia, Episodic, With Nystagmus Ataxia, Familial Paroxysmal Cacna1a-Related Episodic Ataxia Type 2 Cerebellar Ataxia [ukgtn.nhs.uk]

  2 WDR81 Cerebellar ataxia with spasticity GBA2 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4 ATP8A2 Cerebellar ataxia, nonprogressive, with mental retardation CAMTA1 Cerebellar ataxia, SNX14 related SNX14 Cerebellar hypoplasia [centogene.com]

• Areflexia

  […] genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia [malacards.org]

  Showing of 12 | Percent of people who have these symptoms is not available through HPO Absence seizure Brief seizures with staring spells 0002121 Areflexia Absent tendon reflexes 0001284 Ataxia 0001251 Atonic seizures 0010819 Autosomal recessive inheritance [rarediseases.info.nih.gov]

  NOL3 Myoglobinuria acute recurrent LPIN1 Myopathy due to Integrin 7A deficiency ITGA7 Myopathy due to myoadenylate deaminase deficiency AMPD1 Myopathy with fiber-type disproportion SELENON Myopathy with fiber-type disproportion type 1 ACTA1 Myopathy, areflexia [centogene.com]

• Confusion

  Some dogs appear confused and scared during these events. The attacks arise daily in over 85% of cases. The disease progress to generalized tonic-clonic seizures in about 40% of affected dogs. [shop.labogen.com]

  We learned that in June 2007, after six years of frustration and confusion, that Adela was suffering from Lafora disease. [globalgenes.org]

  Behavioral changes, depression, confusion, and speech difficulties (dysarthria) are among the early signs and symptoms of this disorder. [ghr.nlm.nih.gov]

  […] myoclonic epilepsy (PME) is a syndrome complex characterized by progressive myoclonus, cognitive impairment, ataxia, and other neurologic deficits. [1] It encompasses several diagnostic entities and often causes diagnostic problems leading to nosological confusion [bioline.org.br]

• Photoparoxysmal Response

  With doses of up to 10 g/day, elimination of photoparoxysmal responses was achieved in all 3 patients. [karger.com]

  Intermittent light stimulation generated a photoparoxysmal response at low frequencies. Epileptic activity did not increase during stages of drowsiness. [elsevier.es]

• Epileptiform Activity

  Generalized epileptiform discharges in 84.2% of patients, while focal discharges were present in ten patients. One of the patient had multifocal epileptiform activity. [bioline.org.br]

• Visceromegaly

  General physical examination revealed no cutaneous stigmata (phacomatosis), visceromegalies, or retinal cherry-red spots. Neurological examination revealed bradypsychia and amnestic deficit for recent events. [elsevier.es]

The medical treatment of progressive myoclonic epilepsy is limited to supportive and symptomatic treatment. The treatment is often successful only for a few months or years. There is no current cure for PME. [epilepsy.com]

Treatment of acute hyperkalaemia in adults [PDF] This guideline has been developed to improve the treatment of acute hyperkalaemia and reduce the risk of complications associated with hyperkalaemia and its treatment. This guideline is a... [evidence.nhs.uk]

Metformin blocks production of glucose (a sugar) and has been used in the treatment of type 2 diabetes since the 1960s. [kipdf.com]

Imaging studies such as diffusion tensor imaging (DTI) may have a role in monitoring response to treatment. Aim: Monitoring response to treatment of CTX. Question: To evaluate monitoring response to CDCA therapy. [2015.dgn2013.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]

Prognosis - Epilepsy progressive myoclonic type 3 Not supplied. Treatment - Epilepsy progressive myoclonic type 3 The medical treatment of progressive myoclonic epilepsy is often successful only for a few months or years. [checkorphan.org]

Well, I remember my husband and I in the summer of 2007 when we learned about Adela’s diagnostic, and we left the neurologist office with a printing from the Internet that was briefly defining Lafora disease and the prognosis of the condition—no plan, [globalgenes.org]

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

Many etiological factors including hereditary and non-hereditary conditions have been reported. However, in up to a third of all cases determining the underlying cause is not possible. [research.unipd.it]

Similarities among the deposits of type IV glycogenosis and Lafora bodies suggest a common structure and, possibly, common etiological factors ( 16 ). [academic.oup.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], [3], [4] Genetic tests had further enhanced the understanding of the disease process [bioline.org.br]

Epidemiology of the mitochondrial DNA 8344A > G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome. J Neurol Neurosurg Psychiatry 2003; 74: 1158–1159. PubMed CrossRef Google Scholar 9. DeVivo DC, DiMauro S. [link.springer.com]

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]

References 1 The epidemiology of epilepsy in Rochester, Minnesota, 1935 through 1967, Epilepsia, 1975, vol. 16 (pg. 1 - 66 ) 2 Natural history of epileptic seizures, Epilepsia, 1983, vol. 24 (pg. 297 - 312 ) 3 Progressive myoclonus epilepsies: specific [academic.oup.com]

His main research interest is in movement disorders, specifically the merging of clinical, electrophysiological and imaging methods to provide insights into the pathophysiology of conditions like dystonia and Parkinson's disease. [books.google.com]

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]

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]

Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. ‎ Página 84 - Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. ‎ [books.google.es]

Our database lists the following as having Epilepsy, progressive myoclonic 3 as a symptom of that condition: * Dentatorubral Pallidoluysian Atrophy Prevention - Epilepsy progressive myoclonic type 3 Not supplied. [checkorphan.org]

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]

__________________________ Opinions on orphan medicinal product designations are based on the following three criteria: • the seriousness of the condition; • the existence of alternative methods of diagnosis, prevention or treatment; • either the rarity [kipdf.com]