1. [Familial dystonia: a case of idiopathic torsion dystonia].
- Author
-
Skłodowski P
- Subjects
- Adult, Disease Progression, Dopamine Agonists therapeutic use, Dopamine beta-Hydroxylase metabolism, Dystonia Musculorum Deformans drug therapy, Dystonia Musculorum Deformans enzymology, Humans, Levodopa therapeutic use, Male, Severity of Illness Index, Dystonia Musculorum Deformans genetics
- 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.
- Published
- 1998