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Primary dystonia, DYT4 type

Disease definition

DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).

ORPHA:98805

Classification level: Disorder
  • Synonym(s):
    • DYT4
    • Hereditary whispering dysphonia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent, Adult
  • ICD-10: G24.1
  • OMIM: 128101
  • UMLS: C1851943  C1860315
  • MeSH: -
  • GARD: 10138
  • MedDRA: -

Summary

Epidemiology

So far, the disease has been reported in one large Australian family.

Clinical description

The age of onset varies from 13 to 37 years. Some patients develop generalized dystonia and psychiatric symptoms.

Etiology

The locus for DYT4 remains unknown.

Genetic counseling

The disease is transmitted in an autosomal dominant manner.

- Last update: April 2009

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