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Dystonia with good response to L-dopa (Segawa's disease) - a genetically determined disease of the extrapyramidal system of dystonia. There are three forms of dystonia with good response to levodopa: DYT5 with autosomal dominance, autosomally recessive and rare DYT14. DYT5 is caused by mutations in the DYT5 gene at the 14q22.1-q22.2 locus encoding the GTP cyclohydrolase. The metabolic block caused by enzyme deficiency contributes to insufficient production of endogenous dopamine. Symptoms appear in childhood, around 4.-8. age. Dystonia is initially limited to the lower limbs and is characterized by gait disturbances; over time generalizes. All symptoms disappear after low doses of levodopa, and the effectiveness of treatment does not decrease with time. Prognosis with a good diagnosis is excellent. The levodopa test is performed in differential diagnosis in each patient with dystonia, regardless of age. The disease was described in 1976 by Masaya Segawa et al. Bibliography

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