Kufor-Rakeb syndrome
MeSH: C537177ORPHA: 306674
Overview
Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment
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 Kufor-Rakeb syndrome, sourced from HPO and Orphanet clinical annotations.
Slow saccadic eye movementsSupranuclear gaze palsyDementiaParkinsonismRigidityLower limb hyperreflexiaBabinski signAbnormal pyramidal signUpper limb hyperreflexiaUrinary incontinenceTongue muscle weaknessHypomimic faceShort attention spanAbnormal finger morphologyLethargyGait disturbanceConfusionMyoclonusCerebral cortical atrophyVisual hallucinationAnarthriaLeg muscle stiffnessOculogyric crisisAbnormality of mental functionFatigueDyskinesiaVertical supranuclear gaze palsyNystagmusBlepharospasmEyelid apraxiaApathyDysarthriaMental deteriorationHypertoniaAbnormal foot morphologyFeverDysphagiaBradykinesiaUpper motor neuron dysfunctionBowel incontinenceGeneralized muscle weaknessHyperactive patellar reflexStooped postureLingual dystonia
Classification & Codes
MeSH Code
C537177Orphanet Code
ORPHA:306674Kufor-Rakeb syndrome
| MeSH | C537177 |
| Orphanet | ORPHA:306674 |
| Treatments | 0 drug(s) |
| Symptoms on record | 44 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO