hereditary spastic paraplegia 55
ORPHA: 320375
Overview
gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.
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 55, sourced from HPO and Orphanet clinical annotations.
Optic atrophyOptic neuropathyMild intellectual disabilitySpasticityHyperreflexiaTalipes equinovarusLower limb spasticityHypoplasia of the corpus callosumSpastic paraparesisDistal sensory impairmentSkeletal muscle atrophyOnion bulb formationDecreased sensory nerve conduction velocityUpper limb muscle weaknessBabinski signPoor fine motor coordinationFocal white matter lesionsLower limb muscle weaknessReduced visual acuityTibialis muscle weaknessFoot dorsiflexor weaknessPeripheral neuropathyStrabismusOphthalmoplegiaAbnormal facial shapeArthrogryposis multiplex congenitaCognitive impairment
Classification & Codes
Orphanet Code
ORPHA:320375hereditary spastic paraplegia 55
| Orphanet | ORPHA:320375 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO