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Early-onset generalized limb-onset dystonia

ORPHA256
Synonym(s) DYT1
Dystonia musculorum deformans
EOTD
Early-onset generalized torsion dystonia
Early-onset primary dystonia
Early-onset torsion dystonia
Idiopathic dystonia
Idiopathic torsion dystonia
Oppenheim dystonia
Prevalence 1-9 / 1 000 000
Inheritance Autosomal dominant
Age of onset Childhood
Adolescent
ICD-10
  • G24.1
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Early onset torsion dystonia (EOTD) is a rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body. A US study estimated the prevalence at approximately 1 in 30,000. The estimated prevalence in the general population of Europe seems to be lower, ranging from 1 in 330,000 to 1 in 200,000, although precise figures are currently not available. The estimated prevalence in the Ashkenazi Jewish population is approximately five to ten times higher, due to a founder mutation. Symptoms of EOTD typically develop first in an arm or leg in middle to late childhood. In approximately 30% of patients, the disease progresses to other body regions (generalized dystonia) within about five years. Distribution and severity of symptoms vary widely between affected individuals. The majority of cases from various ethnic groups are caused by an autosomal dominantly inherited deletion of 3 bp (GAG) in the DYT1 gene on chromosome 9q34. This gene encodes a protein named torsinA, which is presumed to act as a chaperone protein associated with the endoplasmic reticulum and the nuclear envelope. It may interact with the dopamine transporter and participate in intracellular trafficking, although its precise function within the cell remains to be determined. Molecular testing and genetic counseling are recommended for individuals with an age of onset below 26 years, and may also be considered in those with onset after 26 years who have a relative with typical early onset dystonia. Treatment options include botulinum toxin injections for focal symptoms, pharmacological therapy such as anticholinergics (most commonly trihexiphenydil) for generalized dystonia and surgical approaches such as deep brain stimulation of the internal globus pallidus or intrathecal baclofen application in severe cases. All patients have normal cognitive function, and despite a high rate of generalization of the dystonia, 75% ofpatients are able to maintain ambulation and independence, and therefore a comparatively good quality of life, with modern treatment modalities.

Expert reviewer(s)

  • Dr Christoph KAMM

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Detailed information

Summary information
Review article
  • EN (2006,pdf)
Clinical practice guidelines
  • EN (2011)Patient Inform
Clinical genetics review
  • EN (2014)
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