Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Over the last years several families affected of a clinical syndrome characterized by sudden ataxia, related to physical or mental stress, and lasting a few days have been described. Intercritical exploration is otherwise normal. We describe a new case which presents the clinical, laboratory and neuroradiological data characteristic of periodic familial ataxia. The patient is a 34 year old male who from his 23 has suffered three crisis of gait inestability, ataxia of trunk and limbs and spontaneous nystagmus in every direction, which increased in association with head movement. These episodes were always in relation with fatigue and stress and have decreased in severity. Mean duration of crisis has been 4 to 6 days. After starting treatment with acetazolamide there have no new crisis. In this case we have found no family history of the disease as it was the rule in previous description.
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PMID:[Familial paroxysmal ataxia: a new case]. 868 Nov 76

A 22-year old female suffering from recurrent oral ulcers, genital ulcers, erythema nodosum, and folliculitis, was diagnosed as having Behcet's disease (BD). She has also hypopigmentation of skin and hair, and optic changes associated with albinism including hypopigmentation of the retina, nystagmus, strabismus, and reduced visual acuity. In this report, we discuss the possibility of precipitating factor in BD that the hypersensitivity, mental stress, and drug resistance which is caused by albinism.
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PMID:A case of Behcet's disease in a patient with albinism. 1831 Oct 45