Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Patients with supranuclear and internuclear ocular motility disorders may have nystagmus and oscillopsia, or need to adopt an abnormal head posture to either fixate or maintain binocularity. Many have a cosmetically unsatisfactory appearance. In addition, because of lesions involving ocular motor nuclei or nerve fascicles, double vision is also a common problem. The usual management of these patients is symptomatic with occlusion or prisms. We report on 11 patients who underwent extraocular muscle surgery with the aim of reducing symptoms and restoring or improving binocular single vision. Three patients had bilateral internuclear ophthalmoplegia with exotropia, 3 had dorsal midbrain syndrome, 2 had residual upgaze palsies after cerebral vascular accidents, 2 had oculopalatal myoclonus and one skew deviation. After surgery, symptoms, visual function and cosmesis improved in nearly all patients. We recommend that surgery should be considered more readily in the rehabilitation of these patients.
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PMID:Surgical treatment of supranuclear and internuclear ocular motility disorders. 937 80

Ataxia telangiectasia is an autosomal recessive multisystem disorder characterized by progressive cerebellar ataxia with onset in childhood, oculocutaneous telangiectasia, increased serum alpha-fetoprotein, immunodeficiency, chromosomal instability, and radiation hypersensitivity. Ataxia-telangiectasia mutated gene (ATM) is one of the known genes to be associated with ataxia telangiectasia. We reported the clinical and genetic findings of three early-onset Chinese patients who demonstrated ataxia, oculomotor apraxia, choreoathetosis, myoclonus and telangiectasia of eyes. Sequence analysis of ATM revealed two known nonsense mutations c.8287C>T and c.9139C>T in the siblings. Though the siblings carried the same mutations, they showed different clinical features involving strephenopodia, exotropia, torsion dystonia, myoclonus and extrapyramidal impairments. The other patient was compound heterozygotes for ATM: c.8911C>T and c.7141_7151delAATGGAAAAAT, both of which were not reported previously and not found in 200 control chromosomes. This study widens the spectrum of mutations and phenotypes in ataxia telangiectasia.
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PMID:Novel ATM mutations with ataxia-telangiectasia. 2662 46