fatty acid hydroxylase-associated neurodegeneration
ORPHA: 329308
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with fatty acid hydroxylase-associated neurodegeneration, sourced from HPO and Orphanet clinical annotations.
Mental deteriorationFallsProgressive spastic paraplegiaProgressive gait ataxiaSupranuclear gaze palsyOptic atrophyHorizontal nystagmusVisual field defectDysarthriaCerebellar atrophyBilateral tonic-clonic seizureHypoplasia of the corpus callosumAnarthriaExpressive aphasiaProgressive spastic quadriplegiaUpper motor neuron dysfunctionLoss of ambulationAtrophy of the spinal cordCerebellar vermis atrophyProgressive extrapyramidal movement disorderProgressive spastic paraparesisGeneralized dystoniaSlow decrease in visual acuityColor vision test abnormalityStrabismusFocal-onset seizureDepressionAnxietyDysphagiaBipolar affective disorderPeripheral neuropathy
Classification & Codes
Orphanet Code
ORPHA:329308fatty acid hydroxylase-associated neurodegeneration
| Orphanet | ORPHA:329308 |
| Treatments | 0 drug(s) |
| Symptoms on record | 31 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO