TH-deficient dopa-responsive dystonia

TH-deficient dopa-responsive dystonia, also known as autosomal recessive dopa-responsive dystonia (DYT5b), is a very rare neurometabolic disorder. It is part of a group of conditions that generally respond to treatment with dopa and present with a range of symptoms, from those seen in dopa-responsive dystonia (DRD) to more severe progressive infantile encephalopathy. The disorder is inherited in an autosomal recessive pattern, meaning two copies of an abnormal gene are needed for a person to develop the condition. This summary brings together information from recognized sources to help people with this condition and their families understand its basic features.

Information about symptoms is currently limited for this condition.

This condition is inherited in an autosomal recessive manner, which means both copies of the gene must have changes for the condition to appear. It is associated with alterations in the TH gene, which plays a role in the production of important brain chemicals.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.