Add to ORKGDystonias are heterogeneous hyperkinetic movement disorders characterized by involun-tary muscle contractions which result in twisting and repetitive movements and abnormal postures. Several causative genes have been identified, but their genetic bases still remain elusive. Primary Torsion Dystonias (PTDs), in which dystonia is the only clinical sign, can be inherited in a monogenic fashion, and many genes and loci have been identified for autosomal dominant (DYT1/TOR1A; DYT6/THAP1; DYT4/TUBB4a; DYT7; DYT13; DYT21; DYT23/CIZ1; DYT24/ANO3; DYT25/GNAL) and recessive (DYT2; DYT17) forms. However most sporadic cases, especially those with late-onset, are likely multifactorial, with genetic and environmental factors interplaying to reach a thres...
Purpose of review We describe here how such mechanisms shared by different genetic forms can give ri...
Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous movement disorder. DYT1...
Dystonia is a syndrome which is characterized by sustained muscle contractions, producing twisting, ...
Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle cont...
Dystonia type 4 (DYT4) was first described in a large family from Heacham in Norfolk with an autosom...
Dystonia has been defined as a syndrome of involuntary, sustained muscle contractions affecting one ...
Dystonia, a common and genetically heterogeneous neurological disorder, was recently defined as a m...
Dystonia is a syndrome characterised by sustained muscle contractions, producing twisting, repetitiv...
Dystonia is a common movement disorder seen by neurologists in clinic. Genetic forms of the disease ...
Primary dystonia is a poorly understood but common movement disorder. Recently, several new primary ...
Knowledge about the genetics of primary torsion dystonia (PTD) has been progressing at a very slow p...
Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous group of movement disor...
Dystonia has been defined as a syndrome of involuntary, sustained muscle contractions affecting one ...
Background: Several genes associated with dystonia have been identified. A mutation in one of these,...
Presently, 17 distinct monogenic primary dystonias referred to as dystonias 1 – 4, 5a,b, 6–8, 10–13 ...
Purpose of review We describe here how such mechanisms shared by different genetic forms can give ri...
Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous movement disorder. DYT1...
Dystonia is a syndrome which is characterized by sustained muscle contractions, producing twisting, ...
Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle cont...
Dystonia type 4 (DYT4) was first described in a large family from Heacham in Norfolk with an autosom...
Dystonia has been defined as a syndrome of involuntary, sustained muscle contractions affecting one ...
Dystonia, a common and genetically heterogeneous neurological disorder, was recently defined as a m...
Dystonia is a syndrome characterised by sustained muscle contractions, producing twisting, repetitiv...
Dystonia is a common movement disorder seen by neurologists in clinic. Genetic forms of the disease ...
Primary dystonia is a poorly understood but common movement disorder. Recently, several new primary ...
Knowledge about the genetics of primary torsion dystonia (PTD) has been progressing at a very slow p...
Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous group of movement disor...
Dystonia has been defined as a syndrome of involuntary, sustained muscle contractions affecting one ...
Background: Several genes associated with dystonia have been identified. A mutation in one of these,...
Presently, 17 distinct monogenic primary dystonias referred to as dystonias 1 – 4, 5a,b, 6–8, 10–13 ...
Purpose of review We describe here how such mechanisms shared by different genetic forms can give ri...
Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous movement disorder. DYT1...
Dystonia is a syndrome which is characterized by sustained muscle contractions, producing twisting, ...
