Nystagmus 4, Congenital, Autosomal Dominant; Nys4

Description

Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations of the eyes, in primary or eccentric gaze, often with a preferred head turn or tilt. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Eye movement recordings reveal that infantile nystagmus is predominantly a horizontal jerk waveform, with a diagnostic accelerating velocity slow phase. However, pendular and triangular waveforms may also be present. The nystagmus may rarely be vertical. As these patients often have normal visual acuity, it is presumed that the nystagmus represents a primary defect in the parts of the brain responsible for ocular motor control; thus the disorder has sometimes been termed 'congenital motor nystagmus' (Tarpey et al., 2006; Shiels et al., 2007).For a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Nystagmus 4, Congenital, Autosomal Dominant; Nys4

  • Ataxia
  • Nystagmus
  • Strabismus
  • Tremor
  • Fatigue
  • Reduced visual acuity
  • Abnormality of eye movement
  • Abnormality of movement
  • Astigmatism
  • Vertigo

And another 8 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Nystagmus 4, Congenital, Autosomal Dominant; Nys4 Is also known as vestibulocerebellar disorder with predominant ocular signs.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

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