hereditary spastic paraplegia 77
ORPHA: 466722
Overview
hereditary spastic paraplegia that has material basis in mutation in the FARS2 gene on chromosome 6p25
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 77, sourced from HPO and Orphanet clinical annotations.
Progressive spastic paraplegiaLower limb spasticityWeakness due to upper motor neuron dysfunctionLower limb hyperreflexiaScissor gaitBabinski signLower limb amyotrophyLoss of ambulationMuscle abnormality related to mitochondrial dysfunctionGlobal developmental delayRetrognathiaMacrodontia of permanent maxillary central incisorStrabismusPtosisAxial hypotoniaIntention tremorDysarthriaPoor head controlSeizureAbsent speechImpaired masticationNeuromuscular dysphagiaSudden episodic apneaKyphoscoliosisFeeding difficulties in infancyUrinary incontinenceBradykinesiaDystoniaEquinovarus deformityHip dysplasiaMyoclonusBilateral cryptorchidismNeurogenic bladderDetrusor sphincter dyssynergiaDevelopmental regressionInsomniaParoxysmal dystonia
Classification & Codes
Orphanet Code
ORPHA:466722hereditary spastic paraplegia 77
| Orphanet | ORPHA:466722 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO