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Fatty acid hydroxylase-associated neurodegeneration

Disease definition

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.

ORPHA:329308

Classification level: Disorder
  • Synonym(s):
    • FAHN
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Childhood, Adolescent
  • ICD-10: G23.0
  • OMIM: 612319
  • UMLS: C3668943
  • MeSH: -
  • GARD: 10810
  • MedDRA: -

Detailed information

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