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)

Myoclonus can be classified as physiologic, essential, epileptic, and symptomatic. Animal models of myoclonus include DDT and posthypoxic myoclonus in the rat. 5-Hydrotryptophan, clonazepam, and valproic acid suppress myoclonus induced by posthypoxia. The diagnostic evaluation of myoclonus is complex and involves an extensive work-up including basic electrolytes, glucose, renal and hepatic function tests, paraneoplastic antibodies, drug and toxicology screens, thyroid antibody and function studies, neurophysiology testing, imaging, and tests for malabsorption disorders, assays for enzyme deficiencies, tissue biopsy, copper studies, alpha-fetoprotein, cytogenetic analysis, radiosensitivity DNA synthesis, genetic testing for inherited disorders, and mitochondrial function studies. Treatment of myoclonus is targeted to the underlying disorder. If myoclonus physiology cannot be demonstrated, treatment should be aimed at the common pattern of symptoms. If the diagnosis is not known, treatment could be directed empirically at cortical myoclonus as the most common physiology. In cortical myoclonus, the most effective drugs are sodium valproic acid, clonazepam, levetiracetam, and piracetam. For cortical-subcortical myoclonus, valproic acid is the drug of choice. Here, lamotrigine can be used either alone or in combination with valproic acid. Ethosuximide, levetiracetam, or zonisamide can also be used as adjunct therapy with valproic acid. A ketogenic diet can be considered if everything else fails. Subcortical-nonsegmental myoclonus may respond to clonazepam and deep-brain stimulation. Rituximab, adrenocorticotropic hormone, high-dose dexamethasone pulse, or plasmapheresis have been reported to improve opsoclonus myoclonus syndrome. Reticular reflex myoclonus can be treated with clonazepam, diazepam and 5-hydrotryptophan. For palatal myoclonus, a variety of drugs have been used.
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PMID:Myoclonus. 2149 98

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