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Primary dystonia, DYT13 type

Disease definition

A rare primary torsion dystonia characterized by focal or segmental dystonia with onset either in the cranial-cervical region or in the upper limbs. Age of onset varies between 5 years and adulthood, with a mean age of onset of 16 years. Clinical manifestations are generally mild and slowly progressive.

ORPHA:98807

Classification level: Disorder
  • Synonym(s):
    • DYT13
    • Primary dystonia with mixed phenotype
    • Primary torsion dystonia with predominant craniocervical or upper limb onset
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood, Adolescent
  • ICD-10: G24.1
  • ICD-11: 8A02.0Y
  • OMIM: 607671
  • UMLS: C1843264
  • MeSH: C564354
  • GARD: 10537
  • MedDRA: -

  A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009)

Detailed information

Guidelines

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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