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Autosomal dominant focal dystonia, DYT7 type

Orpha number ORPHA93963
Synonym(s) Adult-onset focal torsion dystonia
Adult-onset idiopathic torsion dystonia
DYT7
Prevalence Unknown
Inheritance
  • Autosomal dominant
Age of onset Adulthood
ICD-10
  • G24.1
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Focal dystonia DYT7 type is characterized by predominantly cervical and laryngeal dystonia, and postural tremor. Prevalence is unknown but the disease was first reported in seven members of a large Northwestern German family. DYT7 has a late onset (28-70 years). Hand tremor and writer's cramps have also been described. Usually, the disease does not progress to generalized dystonia. DYT7 is transmitted in an autosomal dominant manner with reduced penetrance and the DYT7 locus has been mapped to chromosome 18p.


Last update: May 2009

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Detailed information
Review article
  • EN (2006)
Clinical practice guidelines
  • EN (2011)Patient Inform
Article for general public
  • FR (2006,pdf)
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