hereditary spastic paraplegia 57
ORPHA: 431329
Overview
gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.
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 57, sourced from HPO and Orphanet clinical annotations.
Abnormality of peripheral nerve conductionDifficulty climbing stairsDifficulty standingOptic atrophySpasticitySpastic paraplegiaInability to walkBabinski signAbnormal Achilles tendon morphologySensorimotor neuropathyMotor polyneuropathyDistal lower limb amyotrophyPeripheral neuropathyAbnormal myelination
Classification & Codes
Orphanet Code
ORPHA:431329hereditary spastic paraplegia 57
| Orphanet | ORPHA:431329 |
| Treatments | 0 drug(s) |
| Symptoms on record | 14 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO