Dystonia is a clinically and genetically heterogeneous movement disorder that is characterized by sustained or intermittent muscle contractions causing abnormal movements and/or postures. Although the cause of the disease remains unknown in most patients, genetic causes seem to play an important role. To date, mutations in more than 200 genes have been linked to dystonic phenotypes that often present rare and specific subforms of dystonia including early onset, generalized dystonia. Known dystonia genes encode proteins that affect mostly diverse cellular functions and a common molecular pathways of all monogenic dystonias has not (yet) been elucidated. The majority of dystonias seems to be caused by a combination of genetic and environmental factors. In this review, we will introduce several well-established dystonia genes for isolated dystonias (dystonia as the only movement disorder except for dystonic tremor) and combined dystonias (dystonia in combination with parkinsonsim, myoclonus, or chorea). Moreover, we will present selected genes that cause complex dystonias, in which dystonia is accompanied by non-neurological disorder and/or developmental delay. Therapeutic strategies include oral medication, botulinum toxin, and deep brain stimulation and depend on the patients' needs. Notably, treatment outcome in dystonia is only slightly influenced by the genetic status.
Research Areas and Centers
- Research Area: Medical Genetics