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Disease Pantothenate Kinase-Associated Neurodegeneration

Name Pantothenate Kinase-Associated Neurodegeneration
Synonyms Degeneration, Pigmentary Pallidal | Dystrophies, Juvenile-Onset Neuroaxonal | Dystrophy, Juvenile-Onset Neuroaxonal | Hallervorden Spatz Disease | Hallervorden-Spatz Disease | Hallervorden Spatz Syndrome | Hallervorden-Spatz Syndrome | Juvenile-Onset Neuroaxonal Dystrophies | Juvenile-Onset Neuroaxonal Dystrophy | NBIA1 | Neuroaxonal Dystrophies, Juvenile-Onset | Neuroaxonal Dystrophy, Juvenile Onset | Neuroaxonal Dystrophy, Juvenile-Onset | Neurodegeneration, Pantothenate Kinase-Associated | Neurodegeneration With Brain Iron Accumulation 1 | Neurodegeneration with Brain Iron Accumulation Type 1 | Pallidal Atrophy, Pigmentary | Pantothenate Kinase Associated Neurodegeneration | PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION | Pigmentary Pallidal Atrophy | Pigmentary Pallidal Degeneration | PKAN | PKAN Neuroaxonal Dystrophy, Juvenile Onset | PKAN Neuroaxonal Dystrophy, Juvenile-Onset
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)
Categories Genetic disease (inborn) | Nervous system disease
MeSH® ID D006211
OMIM® ID 234200
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Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Basal Ganglia Diseases Has associated chemicals Has associated genes Has associated exposure references Pantothenate Kinase-Associated Neurodegeneration Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Neuroaxonal Dystrophies Has associated chemicals Has associated genes Pantothenate Kinase-Associated Neurodegeneration Has associated chemicals Has associated genes
3. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Movement Disorders Has associated chemicals Has associated genes Has associated exposure references Pantothenate Kinase-Associated Neurodegeneration Has associated chemicals Has associated genes
4. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurodegenerative Diseases Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Pantothenate Kinase-Associated Neurodegeneration Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Pantothenate Kinase-Associated Neurodegeneration Has associated chemicals Has associated genes

Top ↑ Descendants

Pantothenate Kinase-Associated Neurodegeneration Has associated chemicals Has associated genes
  Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration Has associated chemicals Has associated genes