Pantothenate-kinase-associated neurodegeneration (Q101862): Difference between revisions
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A neurodegeneração associada à pantotenato quinase (PKAN) é um tipo de neurodegeneração com acúmulo de ferro no cérebro (NBIA). O espectro fenotípico da PKAN inclui a PKAN clássica e a PKAN atípica. A PKAN clássica é caracterizada pelo início na primeira infância de distonia progressiva, disartria, rigidez e coreoatetose. A degeneração pigmentar da retina é comum. A PKAN atípica é caracterizada por início tardio (idade >10 anos), distúrbios significativos da fala e psiquiátricos e progressão mais gradual da doença. | |||
| description / en | description / en | ||
Pantothenate kinase-associated neurodegeneration (PKAN) is a type of neurodegeneration with brain iron accumulation (NBIA). The phenotypic spectrum of PKAN includes classic PKAN and atypical PKAN. Classic PKAN is characterized by early childhood onset of progressive dystonia, dysarthria, rigidity, and choreoathetosis. Pigmentary retinal degeneration is common. Atypical PKAN is characterized by later onset (age >10 years), prominent speech defects, psychiatric disturbances, and more gradual progression of disease. | |||
Revision as of 18:42, 16 August 2026
Pantothenate kinase-associated neurodegeneration (PKAN) is a type of neurodegeneration with brain iron accumulation (NBIA). The phenotypic spectrum of PKAN includes classic PKAN and atypical PKAN. Classic PKAN is characterized by early childhood onset of progressive dystonia, dysarthria, rigidity, and choreoathetosis. Pigmentary retinal degeneration is common. Atypical PKAN is characterized by later onset (age >10 years), prominent speech defects, psychiatric disturbances, and more gradual progression of disease.
| Language | Label | Description | Also known as |
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| default for all languages | ID_183705274 |
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| English | Pantothenate-kinase-associated neurodegeneration |
Pantothenate kinase-associated neurodegeneration (PKAN) is a type of neurodegeneration with brain iron accumulation (NBIA). The phenotypic spectrum of PKAN includes classic PKAN and atypical PKAN. Classic PKAN is characterized by early childhood onset of progressive dystonia, dysarthria, rigidity, and choreoathetosis. Pigmentary retinal degeneration is common. Atypical PKAN is characterized by later onset (age >10 years), prominent speech defects, psychiatric disturbances, and more gradual progression of disease. |
