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

The myoclonus of two patients with Ramsay Hunt syndrome was only partially controlled under treatment with clonazepam, sodium valproate, primidone, and piracetam. Acetazolamide (200 mg daily) was added to these drugs, resulting in a dramatic improvement. Placebo substitution (one patient) and withdrawal of acetazolamide in the other patient resulted in marked aggravation of the myoclonus. The mechanism of action of acetazolamide in myoclonus is unknown. Acetazolamide may be an additional therapeutic possibility for patients with severe action myoclonus.
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PMID:Acetazolamide improves action myoclonus in Ramsay Hunt syndrome. 142 38

A 13-year-old girl with Satoyoshi's syndrome is described. The disease manifested itself with generalized cramps, myoclonus, alopecia, diarrhea, growth retardation, muscular hypertrophies, bone malformations, and uterine and gonadal aplasia in the presence of normally developed breasts. Acetazolamide therapy led to a considerable alleviation of cramps and myoclonuses. The child's father displayed gynecomasty, muscular hypertrophy, patent palate, early alopecia and intensified lumbar lordosis; as a child she had had marked cramps in the leg muscles. The examination of the karyotype in the proband and father revealed heteromorphism with regard to the central region of the 22nd chromosome in both cases. Differential staining of the chromosomes failed to show the deletion of any fragment of this chromosome which made it possible to consider this karyotype peculiarity as a variant of the norm.
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PMID:[Positive therapeutic effect of diacarb in the syndrome of progressive muscle spasms, alopecia and diarrhea (Satoyoshi syndrome)]. 652 80

Acetazolamide treatment significantly improves action myoclonus in Ramsay Hunt Syndrome. A family with two brothers and a sister, and a sporadic case with Ramsay Hunt Syndrome and uncontrollable action myoclonus, are described where addition of oral acetazolamide lead to marked improvement in their action myoclonus.
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PMID:Acetazolamide therapy improves action myoclonus in Ramsay Hunt Syndrome. 907 41