[Familial dystonia: a case of idiopathic torsion dystonia].
A 43 year old man suffered from the involuntary movements since 10-th year of age. Those movements, initially mild, have progressed in the course of the disease. In the neurological examination the dystonic involuntary movements of the neck, trunk and limbs, more expressed on the right side, were observed. The laboratory findings were normal, except the level of dopamine beta-hydroxylase, which was increased. Similar results were observed also in the closest relatives of our patient. After the treatment with high doses of L-Dopa we achieved a considerable decrease of the symptoms.
Skłodowski
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Oddziału Neurologii W.S.Z im. M. Kopernika w Lodzi.
D000328:Adult; D018450:Disease Progression; D018491:Dopamine Agonists / Q000627:therapeutic use; D004299:Dopamine beta-Hydroxylase / Q000378:metabolism; D004422:Dystonia Musculorum Deformans / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D012720:Severity of Illness Index
D018491:Dopamine Agonists; D007980:Levodopa; D004299:Dopamine beta-Hydroxylase