fatty acid hydroxylase-associated neurodegeneration
Findings
No curated finding names fatty acid hydroxylase-associated neurodegeneration yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0017999), read 2026-09-29. CC BY 4.0.
Features
31 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- FallsHPOHP:0002527
- Very frequent (80% to 99% of cases)
- Mental deteriorationHPOHP:0001268
- Very frequent (80% to 99% of cases)
- Progressive gait ataxiaHPOHP:0007240
- Very frequent (80% to 99% of cases)
- Progressive spastic paraplegiaHPOHP:0007020
- Very frequent (80% to 99% of cases)
- AnarthriaHPOHP:0002425
- Frequent (30% to 79% of cases)
- Atrophy of the spinal cordHPOHP:0006827
- Frequent (30% to 79% of cases)
- Bilateral tonic-clonic seizure
Show the remaining 19
- Generalized dystoniaHPOHP:0007325
- Frequent (30% to 79% of cases)
- Horizontal nystagmusHPOHP:0000666
- Frequent (30% to 79% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- Frequent (30% to 79% of cases)
- Loss of ambulationHPOHP:0002505
- Frequent (30% to 79% of cases)
- Optic atrophyHPOHP:0000648
- Frequent (30% to 79% of cases)
- Progressive extrapyramidal movement disorderHPOHP:0007153
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: fatty acid hydroxylase-associated neurodegeneration
- Also called
- FAHN