Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Syndromic dyslipidemia · Disorder of phospholipids, sphingolipids and fatty acids biosynthesis · Neurodegeneration with brain iron accumulation · Complex hereditary spastic paraplegia
Fatty acid hydroxylase-associated neurodegeneration
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.
This condition has no sub-types.