Dystonia, a common and genetically heterogeneous neurological disorder, was recently
defined as “a movement disorder characterized by sustained or intermittent muscle …

Dystonia is a common movement disorder seen by neurologists in clinic. Genetic forms of
the disease are important to recognize clinically and also provide valuable information about …

The dystonias are a group of disorders characterized by excessive contraction of muscles
leading to abnormal involuntary movements. The clinical manifestations are very …

Background: In recent years, the identification of several new dystonia genes has provided
important insights into the nature of this clinically and genetically heterogeneous disorder …

The recent mapping of additional dystonia gene loci, the identification of novel dystonia
genes, and the characterization of proteins encoded by these genes have enhanced our …

Dystonia is a clinically and genetically highly heterogeneous neurological disorder
characterized by abnormal movements and postures caused by involuntary sustained or …

Genetic testing through a variety of methods is a fundamental but underutilized approach for
establishing the precise genetic diagnosis in patients with heritable forms of dystonia. Our …

Gene discovery for dystonic disorders proceeds rapidly, but a high proportion of cases
remain undiagnosed. The proliferation of rare disorders means that it is no longer realistic …

Genetic findings of the past years have provided ample evidence for a substantial etiologic
heterogeneity of dystonic syndromes. While an increasing number of genes are being …

Advances in molecular biology have revealed mutations in increasing numbers of genes
that cause several forms of primary and secondary dystonia. Studies of the biologic function …