Disease or Syndrome
torsion dystonia
Subclass of:
Heredodegenerative Disorders, Nervous System;
Basal Ganglia Diseases;
Dystonia Disorders
Definitions related to dystonia musculorum deformans:
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(torsion dystonia) Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.Human Phenotype Ontology (HPO)The Human Phenotype Ontology Project, 2021
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(idiopathic torsion dystonia) Torsion dystonia for which no underlying cause has been identified.NCI ThesaurusU.S. National Cancer Institute, 2021
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A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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