atypical pantothenate kinase-associated neurodegeneration
ORPHA: 216873
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 atypical pantothenate kinase-associated neurodegeneration, sourced from HPO and Orphanet clinical annotations.
Emotional labilityDepressionIrritabilitySpasticityDysarthriaParkinsonismHyperreflexiaRigidityLimb dystoniaUpper motor neuron dysfunctionFocal dystoniaViolent behaviorImpulsivityCompulsive behaviorsGait disturbanceTremorDysphagiaChoreaAbnormal speech patternAbnormal pyramidal signOromandibular dystoniaInertiaCognitive impairmentRetinopathyBlindnessOptic atrophyPsychosisClumsinessFrequent fallsTongue atrophy
Classification & Codes
Orphanet Code
ORPHA:216873atypical pantothenate kinase-associated neurodegeneration
| Orphanet | ORPHA:216873 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO