This comprehensive MDSGene review is devoted to 7 genes—TOR1A, THAP1, GNAL,
ANO3, PRKRA, KMT2B, and HPCA—mutations in which may cause isolated dystonia. It …

The dystonias are defined by excessive muscular contraction producing involuntary
abnormal movements. 1 The clinical appearance of abnormal movements in the dystonias …

Dystonia is a common movement disorder involving abnormal, often twisting postures and is
a challenging condition to diagnose as we present here in a comprehensive overview. The …

Dystonia is a movement disorder characterized by sustained or intermittent muscle
contractions causing abnormal postures, repetitive movements, or both. Research in …

Myoclonus dystonia is a childhood-onset hyperkinetic movement disorder with a combined
motor and psychiatric phenotype. It represents one of the few autosomal dominant inherited …

The aetiology of dystonia disorders is complex, and next-generation sequencing has
become a useful tool in elucidating the variable genetic background of these diseases. Here …

Background In the field of movement disorders, what you see (phenotype) is seldom what
you get (genotype). Whereas 1 phenotype was previously associated to 1 gene, the advent …

Dystonia is a debilitating hyperkinetic movement disorder, which can be transmitted as a
monogenic trait. Here, we describe homozygous frameshift, nonsense, and missense …

The discovery of biological pathways shared between different monogenic dystonias is an
important conceptual advance in the understanding of the underlying mechanisms, with a …

Dystonia is a complex neurological movement disorder characterized by involuntary muscle
contractions. Increasing studies implicate the microbiome as a possible key susceptibility …