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[Dopa-responsive dystonia (Segawa syndrome) with secondary skeleton deformity].

Dopa-responsive dystonia (DRD) is a rare, autosomal dominant (GTP-cyclohydroxylase gen mutation on chromosome 14q) or rarely recessive (tyrosine hydroxylase gene mutation on chromosome 11p) inherited disorder. Both enzymes take part in dopamine synthesis. Their deficiencies cause the dopamine level reduction. The first clinical symptoms occur in the childhood. The authors present the case of a 24-year-old woman in whom the lower limb dystonia occurred when she was five. Then the trunk and upper limbs dystonia appeared with skeleton deformities leading to deep disability. DRD was recognized when she was 19 and L-Dopa was administered. The clinical status improved, dystonic movements disappeared completely. The authors indicate that DRD must be taken into account in differential diagnosis of movement disorders in children, mostly in progressive cases. Good effect of L-Dopa treatment is one of the basic phenomena helpful in DRD recognition.