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Benign paroxysmal tonic upgaze of childhood with ataxia(NOC2)

MedGen UID:
401473
Concept ID:
C1868576
Disease or Syndrome
Synonyms: NEUROOCULAR SYNDROME 2, PAROXYSMAL TYPE; NOC2; 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

Paroxysmal type neuroocular syndrome-2 (NOC2) is characterized by daily paroxysmal spells characterized by eye deviation or nystagmus with abnormal head posturing apparent from birth or early infancy. The episodes tend to be triggered after sleeping, and most patients show improvement of the ocular symptoms over time. Affected individuals also have hypotonia, mild developmental delay, dysarthria, and gait ataxia; most have mildly impaired intellectual development. Seizures are not observed (Bainbridge et al., 2022). For a discussion of genetic heterogeneity of neuroocular syndrome, see NOC1 (619539). [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
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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