Dystonia - Genetics
Research News and Information

Sunday, November 22, 2009

[Genetics of dystonia]

12 Aug 2009 The dystonias comprise a heterogeneous group of movement disorders. In contrast to the frequent sporadic forms, a variety of rare familial forms are caused by genetic mutations with mendelian inheritance. In recent years, significant progress has ... Read more...

Cerebellothalamocortical connectivity regulates penetrance in dystonia.

3 Aug 2009 Dystonia is a brain disorder characterized by sustained involuntary muscle contractions. It is typically inherited as an autosomal dominant trait with incomplete penetrance. While lacking clear degenerative neuropathology, primary dystonia is ... Read more...

Genetics and treatment of dystonia.

30 Jul 2009 The torsion dystonias encompass a broad collection of etiologic subtypes, often divided into primary and secondary classes. Tremendous advances have been made in uncovering the genetic basis of dystonia, including discovery of a gene causing early ... Read more...

Latest indexed articles for 'Dystonia - Genetics'

These are the very latest articles for this heading:

• [Genetics of dystonia] 12 Aug 2009
• Cerebellothalamocortical connectivity regulates penetrance in dystonia. 3 Aug 2009
• Genetics and treatment of dystonia. 30 Jul 2009
• POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons. 26 Jul 2009
• Oromandibular dystonia as a complication of cerebrotendinous xanthomatosis. 13 Jul 2009
• What's new in dystonia? 29 Jun 2009
• Abnormal striatal and thalamic dopamine neurotransmission: Genotype-related features of dystonia. 14 Jun 2009
• HLA-B62 and HLA-DQ8 are associated with Complex Regional Pain Syndrome with fixed dystonia. 9 Jun 2009
• Successful management of pregnancy in a patient with Segawa disease: case report and literature review. 30 May 2009
• Is psychopathology part of the phenotypic spectrum of myoclonus-dystonia?: a study of a large Dutch M-D family. 30 May 2009
• Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia. 24 May 2009
• EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias. 10 May 2009
• A mutation in the IL-2 receptor gamma chain gene associated with X-linked severe combined immunodeficiency accompanying opisthotonus. 29 Apr 2009
• Altered fast- and slow-twitch muscle fibre characteristics in female mice with a (S248F) knock-in mutation of the brain neuronal nicotinic acetylcholine receptor. 27 Apr 2009
• The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases? 19 Apr 2009
• "Jerky" dystonia in children: spectrum of phenotypes and genetic testing. 13 Apr 2009
• TorsinA and dystonia: from nuclear envelope to synapse. 6 Apr 2009
• A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism. 5 Apr 2009
• Etiology of musician's dystonia: familial or environmental? 5 Apr 2009
• LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation. 30 Mar 2009

See a longer list of these articles.

Technical information about 'Dystonia'

Definition: An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)

Descriptor UI: D004421

Alternative terms: Dystonia; Muscle Dystonia; Dystonia, Muscle; Dystonia, Paroxysmal; Paroxysmal Dystonia; Dystonia, Diurnal; Diurnal Dystonia; Dystonia, Limb; Limb Dystonia;

Related Mesh Headings: Dystonia Musculorum Deformans; Torsion Abnormality; Dystonic Disorders;

Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; congenital; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; urine; veterinary; ultrasonography; virology;

Tree Number: C10.597.350.300; C23.888.592.350.300;

History Note: 1982

Technical Notes: do not confuse with MUSCLE HYPERTONIA or MUSCLE HYPOTONIA; DYSTONIC DISORDERS is available