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)

A case of an older patient with the Angelman syndrome due to a deletion at the 15q11-q13 region is presented. The patient demonstrated generalized prolonged myoclonus severe enough to produce temperatures of 41.4 degrees C and CPK elevations to 7281 U/l. This myoclonus was unresponsive to benztropine, clonazepam and worsened with bromocriptine. It resolved with sleep induced by either lorazepam or diphenhydramine and during treatment with reserpine. Once discharged from the hospital and treated with reserpine, there were much less frequent recurrences of the myoclonus that responded well to concomitant treatment with clonazepam. Later attempts to reduce the reserpine resulted in worsening of the myoclonus. Older patients with Angelman syndrome may display a wide variety of neurologic syndromes. This severe myoclonus in this patient worsened with dopamine agonist treatment and initially improved with dopamine depletion therapy while in the long-term responding best to a combination of clonazepam and reserpine.
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PMID:Reserpine responsive myoclonus and hyperpyrexia in a patient with Angelman syndrome. 1286 May 12