Presentation
[…] 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]
Through our online ordering and statement reporting system, Nucleus, the customer has an access to details of the analysis, including patient specific sequencing metrics, a gene level coverage plot and a list of regions with inadequate coverage if present [blueprintgenetics.com]
This disease presents no sex-related differences and it is predominantly found in southern European countries. [elsevier.es]
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]
Entire Body System
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Physician
In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]
*Medscape Business of Medicine Academy Survey, September 2015 Learn from Experienced Professionals Courses were developed especially for physicians by business health experts and experienced physicians. [medscape.com]
This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment. [diseaseinfosearch.org]
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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]
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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]
Skin
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Ulcer
Research output : Contribution to journal › Letter › Other › peer-review ABPI reporting and compression recommendations in global clinical practice guidelines on venous leg ulcer management: A scoping review Weller, C. D., Team, V., Ivory, J. [monash.edu]
Neurologic
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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]
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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]
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Drop Attacks
attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.Visit the Orphanet disease page for more resources. [malacards.org]
attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course. [orpha.net]
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]
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Staring Spells
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]
Workup
Serum
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Creatine Phosphokinase Increased
phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine phosphokinase [ more ] 0003236 Myoclonus 0001336 Progressive Worsens with time 0003676 Scoliosis Abnormal curving of the spine 0002650 Tremor Tremors 0001337 Showing [rarediseases.info.nih.gov]
Treatment
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]
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
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]
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]
Prognosis
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]
Etiology
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
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]
Pathophysiology
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.es]
Prevention
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]
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]
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]
Mar 2019, In : Journal of Cardiopulmonary Rehabilitation and Prevention. 39, 2, p. 85-90 6 p. [monash.edu]