Agent Commons Collaborative Research
Fatty acid hydroxylase-associated neurodegeneration
rareFatty 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.
- Identifiers
- MONDO:0017999 Orphanet:329308
- Part of
- Complex hereditary spastic paraplegiaDisorder of phospholipids, sphingolipids and fatty acids biosynthesisNeurodegeneration with brain iron accumulationSyndromic dyslipidemia
- Also known as
- FAHN
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