Group of diseases characterized by sustained and involuntary muscle contractions resulting in repetitive torsion movements and abnormal postures. These movements can occur during voluntary movement they parasite or at rest (abnormal postures). Biological analyzes and MRI scans are normal.

Early forms begin before 10 years of age with involvement of the limbs. The prognosis is more severe if the disease starts in the lower limbs.

Clinical expression is variable: from dystonia of the trunk to spasmodic torticolis as well as blepharospasm or writer's cramp.

From a genetypic point of view, one distinguishes:

-        dystonia/torsion associated with a mutation in the DYT1 gene (9q32-q34) coding for torsin; more common in the Ashkenase Jewish population (1/5000);

-        a mutation located on chromosome 8, in the Mennonite families: craniocervical or generalized forms in young or  adults

-        a mutation located on chromosome 18 (DYT15) in one German family: most often spasmodic torticolis or Meige's syndrome

-        a mutation of the gene coding for sarcoglycan epsilon causing dystonia with myoclonia (DYT11) (see familial myoclonic Dystonia DYT11 )

Treatment: anti-parkinsonian treatment, anticholinergics; in case of generalized form: bilateral pallidal stimulation.

Anesthetic implications: 

in the presence of a brain stimulator: stop it at induction of anesthesia; preferably use a bipolar electrocautery with short times of use. Do not perform MRI without the advice of the neurosurgeon.

References : 

• Nemeth AH.
  The genetics of primary dystonias and related disorders.
  Brain 2002; 125: 695-721
• Vidailhet M.
  Dystonie idiopathique familiale.
  Encyclopédie Orphanet, février 2014
• Maurtua MA, Cata JP, Martinera M, Deogaonkar M, Rezai A, Sung W, Lotto M, Niezgoda J, Schubert A.
  Dexmedetomidine for deep brain stimulator placement in a child with primary generalized dystonia: case report and literature review.
  J Clin Anesth 2009; 21:213-6.
• Yeoh TY, Manninen P, Kalia SK, Venkatraghavan L.
  Anesthesia considerations for patients with an implanted deep brain stimulator undergoing surgery: a review and update.
  Can J Anaesth 2017; 64: 308-19.

Updated: September 2022