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1,791 Possible Causes for Arrhythmias Detected Prenatally, Autofluorescent Lipopigment in Neurons, Progressive Loss of Vision

  • 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] Most childhood forms of NCL are clinically characterized by progressive loss of vision as well as mental and motor deterioration, epileptic seizures, and premature death,[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] JB disease first manifests as ataxia, progressive developmental milestone losses, epilepsy, and posterior vision losses in children of 2-4 years of age.[scielo.br] Seizure 0001250 Visual loss Loss of vision Vision loss [ more ] 0000572 30%-79% of people have these symptoms Abnormality of metabolism/homeostasis Laboratory abnormality[rarediseases.info.nih.gov]

    Missing: Arrhythmias Detected Prenatally
  • 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] JB disease first manifests as ataxia, progressive developmental milestone losses, epilepsy, and posterior vision losses in children of 2-4 years of age.[scielo.br] […] processes: accumulation of autofluorescent lipopigments within various cell types and loss of cells, especially in the cerebral cortex 1-3.[scielo.br]

    Missing: Arrhythmias Detected Prenatally
  • Neuronal Ceroid Lipofuscinosis Type 3

    […] by an accumulation of autofluorescent lipopigments in neurons and extraneuronal tissues.[alliedacademies.org] Like the other neuronal ceroid-lipofuscinoses, it is characterized by progressive loss of vision, seizures, and loss of cognitive and motor functions, leading to premature[ingentaconnect.com] The symptoms of juvenile CLN3 disease usually become apparent between 5 and 15 years of age when progressive loss of vision, seizures, and progressive neurological degeneration[rarediseases.org]

    Missing: Arrhythmias Detected Prenatally
  • Congenital Neuronal Ceroid Lipofuscinosis 

    […] material containing autofluorescent lipopigments.[ncbi.nlm.nih.gov] They share the common features of motor and cognitive decline, epilepsy, ataxia, and vision loss with variable rate of progression ( 89 ).[ncbi.nlm.nih.gov] Neuronal ceroid lipofuscinoses The neuronal ceroid lipofuscinoses are a group of progressive, neurodegenerative disorders named for the histological appearance of storage[ncbi.nlm.nih.gov]

    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] Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material[uniprot.org]

    Missing: Arrhythmias Detected Prenatally
  • Infantile Neuronal Ceroid Lipofuscinosis

    […] by an accumulation of autofluorescent lipopigments in neurons and extraneuronal tissues.[alliedacademies.org] […] degeneration of movement 0002333 Myoclonus 0001336 Progressive visual loss Progressive loss of vision Progressive vision loss Progressive visual impairment Slowly progressive[rarediseases.info.nih.gov] 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]

    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] loss of vision Progressive vision loss Progressive visual impairment Slowly progressive visual loss Vision loss, progressive Visual loss, progressive [ more ] 0000529 Retinal[rarediseases.info.nih.gov] Etiology and Pathophysiology CLN2 is caused by deficiency of the enzyme tripeptidyl peptidase 1 (TPP1), leading to the lysosomal accumulation of an autofluorescent lipopigment[unboundmedicine.com]

    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] , loss of vision and occurrence of blindness, usually with macular degeneration and optic atrophy, convulsions, and mental deterioration; associated with abnormal storage[medigoo.com] […] accumulation of autofluorescent lipopigments.[jnnp.bmj.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] […] neurodegeneration, loss of vision, and a fatal course; the infantile type is Haltia… … Medical dictionary Neuronal ceroid lipofuscinosis — Classification and external resources[medicine.academic.ru] As the disease progressed, he developed progressive vision loss, gait ataxia, action myoclonus, and epilepsy.[annalsofian.org]

    Missing: Arrhythmias Detected Prenatally