hereditary spastic paraplegia 26
MeSH: C536862ORPHA: 101006
Overview
gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 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 26, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilityGait disturbanceMuscle weaknessHyperreflexiaLower limb spasticityCerebral cortical atrophySkeletal muscle atrophyBabinski signSensorimotor neuropathyHyperintensity of cerebral white matter on MRIAbnormality of the urinary systemCataractAbnormal cerebellum morphologyDystoniaPes cavusScoliosisImpaired vibration sensation at anklesPseudobulbar paralysisDyskinesiaHyporeflexiaPremature ovarian insufficiencyDecreased serum testosterone concentration
Classification & Codes
MeSH Code
C536862Orphanet Code
ORPHA:101006hereditary spastic paraplegia 26
| MeSH | C536862 |
| Orphanet | ORPHA:101006 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO