Disease ID | Source | Name | Description |
615073 | OMIM | Dystonia 25 (DYT25) | A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT25 is an autosomal dominant neurologic disorder characterized by adult onset of focal dystonia, usually involving the neck. The dystonia most often progresses to involve other regions, particularly the face and laryngeal muscles, and less commonly the trunk and limbs. The disease is caused by variants affecting the gene represented in this entry. |