inherited Creutzfeldt–Jakob disease
ORPHA: 282166
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 inherited Creutzfeldt–Jakob disease, sourced from HPO and Orphanet clinical annotations.
Abnormality of visionSupranuclear gaze palsyNystagmusEmotional labilityDepressionDementiaShort attention spanIrritabilityAnxietyApathyPersonality changesSeizureConfusionMuscle weaknessMyoclonusTremorSlurred speechGait ataxiaBradykinesiaProgressive cerebellar ataxiaGlobal brain atrophyClumsinessStroke-like episodeAstrocytosisSpastic dysarthriaNeuronal loss in central nervous systemBabinski signLoss of facial expressionDiffuse spongiform leukoencephalopathyCentral nervous system degenerationProgressive forgetfulnessProgressive extrapyramidal muscular rigidityFocal T2 hyperintense basal ganglia lesionAbnormal pyramidal signEEG with persistent abnormal rhythmic activitySpastic hemiparesisAbnormal autonomic nervous system physiologyAkinetic mutismPoor visual behavior for ageSenile plaquesInsomniaExcessive daytime somnolenceHallucinationsDelusionChoreaIncreased CSF protein concentrationAbnormal pupillary functionVestibular nystagmusAmyloidosis of peripheral nervesTrigeminal neuralgia
Classification & Codes
Orphanet Code
ORPHA:282166inherited Creutzfeldt–Jakob disease
| Orphanet | ORPHA:282166 |
| Treatments | 0 drug(s) |
| Symptoms on record | 50 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO