pantothenate kinase-associated neurodegeneration
MeSH: D006211ORPHA: 157850
Overview
neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13
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 pantothenate kinase-associated neurodegeneration, sourced from HPO and Orphanet clinical annotations.
Emotional labilityDepressionCompulsive behaviorsDementiaVisual field defectSaccadic smooth pursuit interruptionsIntellectual disabilityGlobal developmental delayMotor delayHyperreflexiaSlurred speechAbnormal speech patternRecurrent long bone fracturesAttention deficit hyperactivity disorderPallidal degenerationSpeech articulation difficultiesBull's eye maculopathyToe extensor amyotrophySquare-wave jerksTip-toe gaitPalilaliaTachylaliaDysmetric vertical saccadesTicsImpulsivitySeizurePsychotic mentationIntention tremorVisual impairmentRetinal degenerationSpasticityChoreoathetosisGait disturbanceDystoniaAbnormality of extrapyramidal motor functionLoss of ambulationAbnormality of eye movementRod-cone dystrophyPigmentary retinopathyNyctalopiaAtypical behaviorOsteopeniaDysarthriaMental deteriorationParkinsonismAcanthocytosisRigidityLimb dystoniaEye of the tiger anomaly of globus pallidusBulbar signsPeripheral visual field lossAbetalipoproteinemiaLimb painRetinal flecksCraniofacial dystoniaIron accumulation in substantia nigraLeg dystoniaBlindnessImpaired convergenceOptic atrophy
Classification & Codes
MeSH Code
D006211Orphanet Code
ORPHA:157850pantothenate kinase-associated neurodegeneration
| MeSH | D006211 |
| Orphanet | ORPHA:157850 |
| Treatments | 0 drug(s) |
| Symptoms on record | 60 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO