spastic paraplegia 78, autosomal recessive; SPG78
ORPHA: 513436
Overview
human disease
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 spastic paraplegia 78, autosomal recessive; SPG78, sourced from HPO and Orphanet clinical annotations.
StrabismusDysarthriaCerebellar atrophyGait disturbanceHyperreflexiaProgressive cerebellar ataxiaCerebral cortical atrophyPeripheral axonal neuropathyEMG: axonal abnormalityBabinski signProgressive spastic paraplegiaProgressive gait ataxiaCognitive impairmentNeurogenic bladderSupranuclear gaze palsyHorizontal nystagmusDystoniaPes cavusHypoplasia of the corpus callosumProgressive spastic quadriplegiaAbnormal periventricular white matter morphologySensory axonal neuropathyAbnormal pyramidal signFacial myokymiaDementiaHallucinationsProgressive extrapyramidal movement disorder
Classification & Codes
Orphanet Code
ORPHA:513436spastic paraplegia 78, autosomal recessive; SPG78
| Orphanet | ORPHA:513436 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO