title: [Familial dystonia: a case of idiopathic torsion dystonia].
abstract: 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.
authors.affiliation: Oddziału Neurologii W.S.Z im. M. Kopernika w Lodzi.
authors.forename: P
authors.initials: P
authors.lastname: Skłodowski
mesh_terms: 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
chemical_list: D018491:Dopamine Agonists; D007980:Levodopa; D004299:Dopamine beta-Hydroxylase