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Benign paroxysmal tonic upgaze of childhood with ataxia

MedGen UID:
401473
Concept ID:
C1868576
Disease or Syndrome
Synonym: Paroxysmal tonic upgaze, benign childhood, with ataxia
SNOMED CT: Ouvrier Billson syndrome (763127004); Benign paroxysmal tonic upgaze of childhood with ataxia (763127004)
 
Monarch Initiative: MONDO:0008206
OMIM®: 168885
Orphanet: ORPHA1179

Definition

A rare paroxysmal movement disorder with episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements). This is accompanied by ataxic symptoms (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. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBenign paroxysmal tonic upgaze of childhood with ataxia
Follow this link to review classifications for Benign paroxysmal tonic upgaze of childhood with ataxia in Orphanet.

Recent clinical studies

Diagnosis

Lispi ML, Vigevano F
Epileptic Disord 2001 Dec;3(4):203-6. PMID: 11844715
Campistol J, Prats JM, Garaizar C
Dev Med Child Neurol 1993 May;35(5):436-9. doi: 10.1111/j.1469-8749.1993.tb11666.x. PMID: 8495825

Therapy

Campistol J, Prats JM, Garaizar C
Dev Med Child Neurol 1993 May;35(5):436-9. doi: 10.1111/j.1469-8749.1993.tb11666.x. PMID: 8495825

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