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PedAM

Pediatric Disease Annotations & Medicines




Disease cerebellar degeneration
Phenotype C0028738|nystagmus
Sentences 2
PubMedID- 21734596 Methods: eight patients with downbeat nystagmus due to different etiologies (cerebellar degeneration [n = 1], bilateral vestibulopathy [n = 1], bilateral vestibulopathy and cerebellar degeneration [n = 1], arnold-chiari i malformation and cerebellar ataxia [n = 1], cryptogenic cerebellar ataxia [n = 4]) were included.
PubMedID- 21808459 Hvin was evoked in 8/11 cases (72.7%): it increased spontaneous downbeat nystagmus in 3 cases of cerebellar degenerations, it evoked downbeat nystagmus in 2 cases of vermian hypogenesis and in 2 with chiari malformations, and evoked horizontal nystagmus in 1 case with vermian hypogenesis.

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