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1,741 Possible Causes for Arrhythmias Detected Prenatally, Autofluorescent Lipopigment in Neurons, Mental Deterioration

  • Infantile Neuronal Ceroid Lipofuscinosis

    […] by an accumulation of autofluorescent lipopigments in neurons and extraneuronal tissues.[alliedacademies.org] The infantile subtype of NCL (INCL), linked to chromosome 1p32, is characterized by early visual loss and rapidly progressing mental deterioration, resulting in a flat electroencephalogram[nature.com] Hirvasniemi A, Lang H, Lehesjoki AE, Leisti J (1994) Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.[springerlink.com]

    Missing: Arrhythmias Detected Prenatally
  • Neuronal Ceroid Lipofuscinosis Type 4B

    […] of autofluorescent lipopigment storage material 0003208 Granular osmiophilic deposits (GROD) in cells 0003657 Increased neuronal autofluorescent lipopigment 0002074 Myoclonus[rarediseases.info.nih.gov] The early symptoms are followed by epilepsy and progressive physical and mental deterioration.[icd10data.com] […] clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material[humpath.com]

    Missing: Arrhythmias Detected Prenatally
  • Neuronal Ceroid Lipofuscinosis

    Neuronal ceroid lipofuscinoses are a group of rare neurodegenerative disorders that are characterised by an accumulation of autofluorescent lipopigments in neurons and extraneuronal[ncbi.nlm.nih.gov] We report two sibs harbouring a novel mutation (p.Tyr258Asp) in the CLN5 gene and displaying behaviour disturbances and mental deterioration, rather than epilepsy, as the[ncbi.nlm.nih.gov] , epilepsy and the accumulation of an autofluorescent lipopigment in neurones and other cells.[ncbi.nlm.nih.gov]

    Missing: Arrhythmias Detected Prenatally
  • Neuronal Ceroid Lipofuscinosis Type 10

    […] processes: accumulation of autofluorescent lipopigments within various cell types and loss of cells, especially in the cerebral cortex 1-3.[scielo.br] Treatment options are limited to therapies that can help relieve some of the symptoms. 0001249 Mental deterioration Cognitive decline Cognitive decline, progressive Intellectual[rarediseases.info.nih.gov] The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited, progressive neurodegenerative disorders in children and in adults characterized morphologically by two[scielo.br]

    Missing: Arrhythmias Detected Prenatally
  • Neuronal Ceroid Lipofuscinosis Type 3

    […] by an accumulation of autofluorescent lipopigments in neurons and extraneuronal tissues.[alliedacademies.org] The typical early signs are loss of muscle coordination (ataxia) and seizures along with progressive mental deterioration.[brainfoundation.org.au] Subsequently, Purkinje cells, gliosis, and the loss of cortical neurons in association with the pathognomonic accumulation of the autofluorescent lipopigments in the remaining[medlink.com]

    Missing: Arrhythmias Detected Prenatally
  • Neuronal Ceroid Lipofuscinosis Type 7

    The neuronal ceroid lipofuscinoses are characterized by accumulation of autofluorescent lipopigments in the cells and one of the most important pathological manifestations[ncbi.nlm.nih.gov] She had progressive motor and mental deterioration since the age of 2,5 years. Later she developed progressive vision loss, stereotypies, action myoclonus and epilepsy.[ncbi.nlm.nih.gov] EEG abnormality 0002353 Generalized myoclonic seizures 0002123 Global developmental delay 0001263 Juvenile onset Signs and symptoms begin before 15 years of age 0003621 Mental[rarediseases.info.nih.gov]

    Missing: Arrhythmias Detected Prenatally
  • Adult Neuronal Ceroid Lipofuscinosis

    A unifying feature of these devastating conditions is the lysosomal accumulation of autofluorescent lipopigment in neuronal cells [1], [2].[journals.plos.org] deterioration; associated with abnormal storage of sphingomyelin and related lipids in the brain.This is a neurodegenerative disorder.[medigoo.com] […] accumulation of autofluorescent lipopigments.[jnnp.bmj.com]

    Missing: Arrhythmias Detected Prenatally
  • Late-Infantile Neuronal Ceroid Lipofuscinosis

    Synonyms Batten disease, Kuf disease Symtoms and course NCL are characterised by psychomotor deterioriation, visual failure, and the accumulation of autofluorescent lipopigment[alzheimer-europe.org] They are characterized by global mental and motor deterioration, vision loss, and epilepsy ultimately resulting in death.[annalsofian.org] lipopigment 0003463 Increased neuronal autofluorescent lipopigment 0002074 Myoclonus 0001336 Progressive visual loss Progressive loss of vision Progressive vision loss Progressive[rarediseases.info.nih.gov]

    Missing: Arrhythmias Detected Prenatally
  • Northern Epilepsy

    autofluorescent lipopigment 0002074 Myoclonus 0001336 Seizures Seizure 0001250 Showing of 19 Last updated: 12/1/2018 Making a diagnosis for a genetic or rare disease can[rarediseases.info.nih.gov] These occur in approximately 50-70% of individuals with TSC, and are most frequently detected prenatally or in the neonatal period.[clinicaladvisor.com] The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 8 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.[genecards.org]

  • Neuronal Ceroid Lipofuscinosis Type 8

    […] processes: accumulation of autofluorescent lipopigments within various cell types and loss of cells, especially in the cerebral cortex1- 3.[elyzeyiko.gq] Clinical description The disorder is characterized by generalized tonic-clonic seizures with onset at 5 to 10 years of age and subsequent slowly progressive mental deterioration[orpha.net] deterioration.[doi.org]

    Missing: Arrhythmias Detected Prenatally

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