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Concept information

Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Basal Ganglia Diseases > Dystonia Musculorum Deformans
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Dystonia Musculorum Deformans
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Dystonia Musculorum Deformans
Nervous System Diseases > Central Nervous System Diseases > Movement Disorders > Dystonic Disorders > Dystonia Musculorum Deformans

Terme préférentiel

Dystonia Musculorum Deformans  

Type

  • mesh:Descriptor

Définition

  • 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)

Concept générique

Concepts associés

Synonyme(s)

  • Childhood Torsion Disease
  • Dystonia Deformans Musculorum
  • Dystonia Deformans Progressiva
  • Idiopathic Torsion Dystonia
  • Oppenheim-Ziehen Disease
  • Progressive Torsion Spasm
  • Torsion Disease of Childhood
  • Torsion Dystonia

Qualificatif(s) autorisé(s)

Traductions

  • Dystonie musculaire déformante

    français

  • Dystonia musculorum deformans
  • Dystonie idiopathique familiale
  • Dystonie lordotique progressive
  • Maladie de Ziehen-Oppenheim
  • Spasme de torsion

URI

http://data.loterre.fr/ark:/67375/JVR-LZBW8F2Z-8

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 08/07/2013