Fatty acid hydroxylase-associated neurodegeneration

MONDO:0017999

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.

Also known as: FAHN

15 clinical trials for this condition and its sub-types, 0 tagged with Fatty acid hydroxylase-associated neurodegeneration itself.

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↑ Syndromic dyslipidemia (73) ↑ Disorder of phospholipids, sphingolipids and fatty acids biosynthesis (15) ↑ Neurodegeneration with brain iron accumulation (8) ↑ Complex hereditary spastic paraplegia (7)

Including sub-types (15) Tagged with Fatty acid hydroxylase-associated neurodegeneration (0)

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