description | Protein which, if defective, causes dystonia or dystonic conditions that feature persistent or recurrent episodes of dystonia as a major manifestation of disease. Dystonia is a movement disorder with a neurological basis, due to disordered tonicity of muscle. It is characterized by sustained involuntary muscle contractions that cause abnormal postures, twisting, repetitive and patterned movements. It may affect muscles throughout the body (generalized), in certain parts of the body (segmental), or may be confined to particular muscles or muscle groups (focal) |