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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
  • ICD-11: 8A02.0Y
  • OMIM: 128101
  • UMLS: C1860315
  • MeSH: C536698
  • 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

  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

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.