| Disease ID | Source | Name | Description |
| 612716 | OMIM | Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency (DRDSPRD) | A form of DOPA-responsive dystonia. In the majority of cases, patients manifest progressive psychomotor retardation, dystonia and spasticity. Cognitive anomalies are also often present. The disease is due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. The disease is caused by variants affecting the gene represented in this entry. |