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

C536862

Orphanet Code

ORPHA:101006
hereditary spastic paraplegia 26
MeSHC536862
OrphanetORPHA:101006
Treatments0 drug(s)
Symptoms on record22 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO