Dopa-Responsive Dystonia

**Semantic type:** Disease or Syndrome

**Definition:** A genetic disorder in females that presents in early childhood and is responsive to dopamine. It is characterized by clubfeet and Parkinsonian symptoms that may progress from lower to upper extremities witha diurnal pattern, and involuntary muscle contractions and other uncontrolled movements in the lower limbs that worsen with excercise and improve with rest.

**Synonyms:** - Autosomal Dominant Dopa-Responsive Dystonia - Autosomal Dominant Segawa Syndrome - DYT5 Dystonia - Dopa-Responsive Dystonia, Autosomal Dominant - Segawa's Disease