The genetic combined dystonias are a clinically and genetically heterogeneous group of
neurologic disorders defined by the overlap of dystonia and other movement disorders such …

Background: Dystonia refers to a syndrome of sustained muscle contractions, frequently
causing twisting and repetitive movements or abnormal postures. Although age at onset …

The onset of abnormal movements in DYT1 dystonia is between childhood and
adolescence, although it is unclear why clinical manifestations appear during this …

Previous positron emission tomography (PET) studies have shown that nonmanifesting
carriers of the DYT1 dystonia mutation express an abnormal pattern of resting glucose …

One of the great mysteries in dystonia pathophysiology is the role of environmental factors in
disease onset and development. Progress has been made in defining the genetic …

Dystonia has been defined as a syndrome of involuntary, sustained muscle contractions
affecting one or more sites of the body, frequently causing twisting and repetitive movements …

DYT1, the most common inherited dystonia, is caused by a common dominant mutation in
the TOR1A gene that leads to a glutamic acid deletion in the protein torsinA. Wild-type …

Dystonia is often associated with functional alterations in the cerebello-thalamic pathways,
which have been proposed to contribute to the disorder by propagating pathological firing …

Dystonia is a neurological condition characterized by abnormal involuntary movements or
postures owing to sustained or intermittent muscle contractions. Dystonia can be the …

Primary torsion dystonia (PTD) is a chronic movement disorder manifested clinically by focal
or generalized sustained muscle contractions, postures, and/or involuntary movements. The …