Segawa's dystonia

Segawa's dystonia

Neurology A dopa-responsive dystonia of early–childhood/adolescent-onset with progressive difficulty in walking and, in some, spasticity Clinical Diurnal variability–relative mobility in morning, with disability later in day and after exercise. See Dopa-responsive dystonia. Cf Cerebral palsy.
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Examples include ivacaftor (5) to treat type 3 cystic fibrosis, L-dopa to treat Segawa's dystonia (6), and the 12/14 translocation to define people at risk for sudden death because of the long QT interval (7), to name just three.