Focal dystonia is the most common form of primary dystonia characterized by involuntary twisting, abnormal postures and repetitive movements in a specific body part. Musician’s dystonia (MD) is a type of focal task-specific dystonia that presents with loss of voluntary motor control of extensively trained movements when a musician is playing his instrument. The pathophysiology of focal dystonia...

BACKGROUND DYT1 dystonia, a severe form of genetically determined human dystonia, exhibits reduced penetrance among carriers and begins usually during adolescence. The reasons for such age dependence and variability remain unclear. METHODS AND RESULTS We characterized the alterations in D2 dopamine receptor (D2R) signalling in striatal cholinergic interneurons at different ages in mice overex...

DYT11 myoclonus-dystonia (M-D) is a movement disorder characterized by myoclonic jerks with dystonic symptoms and caused by mutations in paternally expressed SGCE, which codes for ε-sarcoglycan. Paternally inherited Sgce heterozygous knock-out (KO) mice exhibit motor deficits and spontaneous myoclonus. Abnormal nuclear envelopes have been reported in cellular and mouse models of early-onset DYT...

Early-onset generalized torsion dystonia, also known as DYT1 dystonia, is a childhood onset heritable neurological movement disorder involving painful, involuntary muscle contractions, sustained abnormal postures, and repetitive movements. It is caused by a GAG deletion in the Tor1A gene located on chromosome 9. TorsinA, the product of the Tor1A gene, is expressed throughout the brain beginning...

Knowledge about the genetics of primary torsion dystonia (PTD) has been progressing at a very slow pace compared with other movement disorders. For many years, only one causative gene was known, DYT1/TOR1A, yet the recent identification of a second PTD causative gene (DYT6/THAP1), the detection of subclinical alterations caused by mutations in PTD genes in some healthy non-penetrant individuals...

Oromandibular dystonia (OMD) refers to involuntary spasms of masticatory, lingual, and pharyngeal muscles. Phenomenologically, there are seven types of OMD: jaw-closing dystonia (JCD); jaw-opening dystonia (JOD); jaw-deviation dystonia (JDD); lip and perioral dystonia; lingual dystonia; pharyngeal dystonia; and combination OMD (1). OMD may be seen in isolation (focal dystonia), as part of a mor...

There is substantial variability in the responsiveness of dystonia patients to deep brain stimulation (DBS), presumably due to the multiple causes of dystonia. This article presents the results of an analysis of the combined published results of individual patient outcomes following DBS for all types of dystonia. From 157 papers reporting clinical outcomes of DBS for dystonia, individual quanti...

1353-8020/$ – see front matter 2012 Elsevier Ltd. http://dx.doi.org/10.1016/j.parkreldis.2012.08.015 Benign essential blepharospasm (BEB) is an adult onset focal dystonia that manifests as forced involuntary eyelid closure usually starting between the fifth and the seventh decade [1]. The frequency is rare; affecting around 1 in 20,000 people, where most of the cases are sporadic, approximately...

Movement disorders represent a significant societal burden for which therapeutic options are limited and focused on treating disease symptomality. Early-onset torsion dystonia (EOTD) is one such disorder characterized by sustained and involuntary muscle contractions that frequently cause repetitive movements or abnormal postures. Transmitted in an autosomal dominant manner with reduced penetran...