Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0344232 (blurred vision)
 2,072 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 55-year-old woman reported blurred vision while walking, numbness and tingling, contact allodynia, and gait imbalance. Visual acuity was 20/20 in both eyes, but there was a loss of 4 lines with horizontal dynamic visual acuity testing. Ocular motility examination demonstrated spontaneous downbeat nystagmus that increased in lateral gaze with a torsional component and impaired smooth pursuits. Head impulse test was positive, and electromyography demonstrated a sensory neuropathy/neuronopathy. Vestibular testing confirmed both central ocular motor pathway and bilateral peripheral vestibular system involvement. The constellation of clinical findings and paraclinical testing was consistent with a recently recognized neurodegenerative disorder termed cerebellar ataxia with neuropathy and vestibular areflexia syndrome.
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PMID:It is not your eyes. 3100 15