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neurodegenerácia asociovaná s pantotenátkinázou

  1. Subject h.neurodegenerácia asociovaná s pantotenátkinázou
    Subject h.Pantothenate Kinase-Associated Neurodegeneration
    Entry termsdegenerácia palidálna, pigmentová
    degenerácia bledej gule, pigmentová
    degenerácia globus pallidus, pigmentová
    degenerácia vnútornej časti šošovkového jadra bazálnych ganglií, pigmentová
    neurodegenerácia spojená s pantotenátkinázou
    English X referencesPigmentary Pallidal Degeneration
    Scope note in EnglishA rare autosomal recessive degenerative disorder which usually presents in late childhood or adolescence. Clinical manifestations include progressive MUSCLE SPASTICITY; hyperreflexia; MUSCLE RIGIDITY; DYSTONIA; DYSARTHRIA; and intellectual deterioration which progresses to severe dementia over several years. (From Adams et al., Principles of Neurology, 6th ed, p972; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp972-929)
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