Fettsyre-hydroksylase-assosiert nevrodegenerasjon


Engelsk navn: Fatty acid hydroxylase-associated neurodegeneration
Engelske synonym: FAHN


Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.



Informasjon

Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.

ORPHA: 329308
Klassifiseringsnivå: Disorder
ICD-10: G23.0



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