hereditary spastic paraplegia 35
ORPHA: 171629
Overview
hereditary spastic paraplegia that has material basis in mutation in the FA2H gene on chromosome 16q23.1
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 35, sourced from HPO and Orphanet clinical annotations.
Spastic paraplegiaGait disturbanceHyperreflexiaLower limb spasticityBabinski signFoot dorsiflexor weaknessOculomotor apraxiaIntellectual disabilityDysarthriaMental deteriorationCerebellar atrophySpastic tetraparesisDysmetriaDysdiadochokinesisHypoplasia of the corpus callosumFrequent fallsLower limb hypertoniaGeneralized dystoniaAtrophy/Degeneration affecting the brainstemCorpus callosum atrophyAnkle clonusCognitive impairmentUrinary incontinenceMask-like faciesNeck muscle weaknessSeizureCerebral cortical atrophyEye of the tiger anomaly of globus pallidusBowel incontinenceKyphosisPositional foot deformityPontocerebellar atrophyEnuresis nocturnaPeripheral demyelinationPollakisuriaOphthalmoplegiaOptic atrophy
Classification & Codes
Orphanet Code
ORPHA:171629hereditary spastic paraplegia 35
| Orphanet | ORPHA:171629 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO