Dystonias are a heterogeneous group of disorders which are known to have a strong inherited basis. This review details recent advances in our understanding of the genetic basis of dystonias, including the primary dystonias, the 'dystonia-plus' syndromes and heredodegenerative disorders. The review focuses particularly on clinical and genetic features and molecular mechanisms. Conditions discussed in detail include idiopathic torsion dystonia (DYT1), focal dystonias (DYT7) and mixed dystonias (DYT6 and DYT13), dopa-responsive dystonia, myoclonus dystonia, rapid-onset dystonia parkinsonism, Fahr disease, Aicardi-Goutieres syndrome, Hallervorden-Spatz syndrome, X-linked dystonia parkinsonism, deafness-dystonia syndrome, mitochondrial dystonias...
The dystonia syndromes are diverse in clinical presentation and show a complex genetic background. T...
Background The focal primary torsion dystonias (FPTDs) form a group of clinical heterogeneous syndro...
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 has been defined as a syndrome of involuntary, sustained muscle contractions affecting one ...
Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle cont...
Dystonia has been defined as a syndrome of involuntary, sustained muscle contractions affecting one ...
Abstract: The majority of studies investigating the molecular pathogenesis and cell biology underlyi...
Dystonia is a neurological condition characterized by abnormal involuntary movements or postures owi...
ABSTRACT The diagnosis and treatment of dystonia are challenging. This is likely due to gaps in the ...
Dystonia is a syndrome which is characterized by sustained muscle contractions, producing twisting, ...
Presently, 17 distinct monogenic primary dystonias referred to as dystonias 1 – 4, 5a,b, 6–8, 10–13 ...
The definition and classification of the dystonias was recently revisited. In the new 2013 classific...
Knowledge about the genetics of primary torsion dystonia (PTD) has been progressing at a very slow p...
The dystonia syndromes are diverse in clinical presentation and show a complex genetic background. T...
Background The focal primary torsion dystonias (FPTDs) form a group of clinical heterogeneous syndro...
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 has been defined as a syndrome of involuntary, sustained muscle contractions affecting one ...
Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle cont...
Dystonia has been defined as a syndrome of involuntary, sustained muscle contractions affecting one ...
Abstract: The majority of studies investigating the molecular pathogenesis and cell biology underlyi...
Dystonia is a neurological condition characterized by abnormal involuntary movements or postures owi...
ABSTRACT The diagnosis and treatment of dystonia are challenging. This is likely due to gaps in the ...
Dystonia is a syndrome which is characterized by sustained muscle contractions, producing twisting, ...
Presently, 17 distinct monogenic primary dystonias referred to as dystonias 1 – 4, 5a,b, 6–8, 10–13 ...
The definition and classification of the dystonias was recently revisited. In the new 2013 classific...
Knowledge about the genetics of primary torsion dystonia (PTD) has been progressing at a very slow p...
The dystonia syndromes are diverse in clinical presentation and show a complex genetic background. T...
Background The focal primary torsion dystonias (FPTDs) form a group of clinical heterogeneous syndro...
Dystonia, a common and genetically heterogeneous neurological disorder, was recently defined as a m...