hereditary spastic paraplegia 74
ORPHA: 468661
Overview
hereditary spastic paraplegia that has material basis in mutation in the IBA57 gene on chromosome 1q42
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 hereditary spastic paraplegia 74, sourced from HPO and Orphanet clinical annotations.
Peripheral axonal neuropathyProgressive spastic paraplegiaVisual impairmentVisual field defectGait disturbancePes cavusEMG: neuropathic changesDistal amyotrophyDistal peripheral sensory neuropathyHyperactive patellar reflexDecreased activity of mitochondrial complex IIDistal lower limb muscle weaknessDecreased Achilles reflexDecreased activity of mitochondrial complex IOptic atrophyBabinski signCerebellar atrophyHypoplasia of the corpus callosumCerebral white matter atrophy
Classification & Codes
Orphanet Code
ORPHA:468661hereditary spastic paraplegia 74
| Orphanet | ORPHA:468661 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO