hereditary spastic paraplegia 11
MeSH: C537483ORPHA: 2822
Overview
hereditary spastic paraplegia that has material basis in mutation in the SPG11 gene on chromosome 15q21
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 11, sourced from HPO and Orphanet clinical annotations.
Mild intellectual disabilityMental deteriorationSpecific learning disabilityHypoplasia of the corpus callosumProgressive spasticityParaparesisPeripheral axonal neuropathySensorimotor neuropathyMotor polyneuropathyLower limb muscle weaknessNystagmusAtypical behaviorEmotional labilityShort attention spanSaccadic smooth pursuit interruptionsAtaxiaDysarthriaGait disturbanceDysphagiaCerebral cortical atrophyMemory impairmentInability to walkEMG: neuropathic changesEMG: axonal abnormalityFrontal cortical atrophyLateral ventricle dilatationUpper limb hyperreflexiaAbnormality of pattern visual evoked potentialsHyperintensity of cerebral white matter on MRIStrabismusVisual impairmentRetinal degenerationPsychosisDementiaLymphedemaSeizureOrthostatic hypotensionParkinsonismObesityPes cavusAbnormality of extrapyramidal motor functionScoliosisDistal amyotrophyAtrophy of the spinal cordFocal T2 hyperintense basal ganglia lesionGeneralized limb muscle atrophyHypothalamic atrophyOverweightAbnormal substantia nigra morphology
Classification & Codes
MeSH Code
C537483Orphanet Code
ORPHA:2822hereditary spastic paraplegia 11
| MeSH | C537483 |
| Orphanet | ORPHA:2822 |
| Treatments | 0 drug(s) |
| Symptoms on record | 49 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO