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"Dopa-responsive" dystonia
- Dopa-responsive dystonia is a disorder that involves involuntary muscle contractions, tremors, and other uncontrolled movements (dystonia). The features of ...
- ... of tyrosine hydroxylase deficiency (also called TH-deficient dopa-responsive dystonia), symptoms usually appear during childhood. Affected individuals may ...
- ... the GCH1 gene have been found to cause dopa-responsive dystonia. This condition is characterized by a pattern of ... to treatment with a medication called L-Dopa. Dopa-responsive dystonia results when one copy of the GCH1 gene ...
- ... not show signs and symptoms of the condition. Dopa-responsive dystonia due to sepiapterin reductase deficiency SPR deficiency Genetic Testing Registry: Dopa-responsive dystonia due to sepiapterin reductase deficiency Dopa-responsive dystonia ...
- ... the SPR gene have been found to cause dopa-responsive dystonia. This condition is characterized by a pattern of ... to treatment with a medication called L-Dopa. Dopa-responsive dystonia can be caused by mutations in one copy ...
- ... have been found to cause a form of dopa-responsive dystonia called TH-deficient dopa-responsive dystonia. This condition is characterized by a pattern of ...