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benign paroxysmal tonic upgaze of childhood with ataxia

Disease Summary
Associated Targets ()

Mondo Description Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.
Mondo Term and Equivalent IDs
MONDO:0008206:  benign paroxysmal tonic upgaze of childhood with ataxia
GARD:0004176: 
MESH:C566817: 
Orphanet:1179: 
SCTID:763127004: 
UMLS:C1868576: