Catalog

Autosomal dominant dopa-responsive dystonia

No MMS code

Link to WHO Definition

Autosomal dominant dopa-responsive dystonia – http://id.who.int/icd/entity/1143673207

This disorder involves involuntary muscle contractions, tremors, and other uncontrolled movements (dystonia). Patients often have diurnal fluctuations with worsening in the afternoon and improvement in the morning. Parikinsonism may occur in older individuals in the family. It is inherited in an autosomal dominant fashion and is often responsive to treatment with L-Dopa, also called Segawa Disease. It is due to a mutation in the GTP Cyclohydrolase gene, sometimes due to variations in other genes.