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.
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)
Hallervorden-Spatz syndrom
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