hereditary spastic paraplegia 48
ORPHA: 306511
Overview
hereditary spastic paraplegia that has material basis in mutation in the AP5Z1 gene on chromosome 7p22.1
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 48, sourced from HPO and Orphanet clinical annotations.
Hypoplasia of the corpus callosumProgressive spastic paraplegiaUrinary incontinenceIntellectual disabilityAtaxiaMyoclonusHyperreflexiaLower limb spasticitySpastic gaitUrinary bladder sphincter dysfunctionElevated circulating creatine kinase concentrationAbnormality of the cervical spineLower limb muscle weaknessHyperintensity of cerebral white matter on MRICognitive impairmentRetinopathyParkinsonismBroad-based gaitPeripheral neuropathy
Classification & Codes
Orphanet Code
ORPHA:306511hereditary spastic paraplegia 48
| Orphanet | ORPHA:306511 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO