Pantothenate Kinase-Associated Neurodegeneration

Pantotenatkinas-associerad neurodegeneration

Svensk definition

En sällsynt, autosomalt recessiv, degenerativ sjukdom som vanligen debuterar sent i barndomen eller i ungdomsåren. Kliniska symtom är fortskridande muskelkramper, hyperreflexi, muskelstelhet, dystoni, dysartri och intellektuell försämring, som med åren utvecklas till svår demens. Patologisk undersökning visar nervcellsatrofi i globus pallidus och järnavlagringar i och kring blodkärl.

Engelsk definition

A 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)

Svenska synonymer

Hallervorden-Spatz syndrom

Engelska synonymer

Neurodegeneration, Pantothenate Kinase-Associated Pantothenate Kinase Associated Neurodegeneration Hallervorden-Spatz Syndrome Hallervorden Spatz Syndrome Neurodegeneration With Brain Iron Accumulation 1 Neurodegeneration with Brain Iron Accumulation Type 1 Pigmentary Pallidal Degeneration Degeneration, Pigmentary Pallidal PKAN Neuroaxonal Dystrophy, Juvenile-Onset PKAN Neuroaxonal Dystrophy, Juvenile Onset Neuroaxonal Dystrophy, Juvenile-Onset Dystrophies, Juvenile-Onset Neuroaxonal Dystrophy, Juvenile-Onset Neuroaxonal Juvenile-Onset Neuroaxonal Dystrophies Juvenile-Onset Neuroaxonal Dystrophy Neuroaxonal Dystrophies, Juvenile-Onset Neuroaxonal Dystrophy, Juvenile Onset Hallervorden-Spatz Disease Hallervorden Spatz Disease Pigmentary Pallidal Atrophy Pallidal Atrophy, Pigmentary