classic pantothenate kinase-associated neurodegeneration
ORPHA: 216866
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 classic pantothenate kinase-associated neurodegeneration, sourced from HPO and Orphanet clinical annotations.
Gait disturbanceAbnormality of the tongueRod-cone dystrophyOptic disc pallorPigmentary retinopathySpasticityDysarthriaHyperreflexiaDysphagiaFrequent fallsEye of the tiger anomaly of globus pallidusAbnormal posturingInability to walkIncreased susceptibility to fracturesMuscle stiffnessAttention deficit hyperactivity disorderGeneralized dystoniaIron accumulation in brainTip-toe gaitCognitive impairmentMask-like faciesGlobal developmental delayWeight lossOpisthotonusAspiration pneumoniaCoughBlindnessSeizure
Classification & Codes
Orphanet Code
ORPHA:216866classic pantothenate kinase-associated neurodegeneration
| Orphanet | ORPHA:216866 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO