| Disease ID | Source | Name | Description |
| 224500 | OMIM | Dystonia 2, torsion, autosomal recessive (DYT2) | A form of torsion dystonia, a disease defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. 'Torsion' refers to the twisting nature of body movements, often affecting the trunk. DYT2 is a slowly progressive form that first affects distal limbs and later involves the neck, orofacial, and craniocervical regions. The disease is caused by variants affecting the gene represented in this entry. |