OBJECTIVES: to provide a revised version of earlier guidelines published in 
2006.
BACKGROUND: primary dystonias are chronic and often disabling conditions with a 
widespread spectrum mainly in young people.
DIAGNOSIS: primary dystonias are classified as pure dystonia, dystonia plus or 
paroxysmal dystonia syndromes. Assessment should be performed using a validated 
rating scale for dystonia. Genetic testing may be performed after establishing 
the clinical diagnosis. DYT1 testing is recommended for patients with primary 
dystonia with limb onset before age 30, and in those with an affected relative 
with early-onset dystonia. DYT6 testing is recommended in early-onset or 
familial cases with cranio-cervical dystonia or after exclusion of DYT1. 
Individuals with early-onset myoclonus should be tested for mutations in the 
DYT11 gene. If direct sequencing of the DYT11 gene is negative, additional gene 
dosage is required to improve the proportion of mutations detected. A levodopa 
trial is warranted in every patient with early-onset primary dystonia without an 
alternative diagnosis. In patients with idiopathic dystonia, neurophysiological 
tests can help with describing the pathophysiological mechanisms underlying the 
disorder.
TREATMENT: botulinum toxin (BoNT) type A is the first-line treatment for primary 
cranial (excluding oromandibular) or cervical dystonia; it is also effective on 
writing dystonia. BoNT/B is not inferior to BoNT/A in cervical dystonia. 
Pallidal deep brain stimulation (DBS) is considered a good option, particularly 
for primary generalized or cervical dystonia, after medication or BoNT have 
failed. DBS is less effective in secondary dystonia. This treatment requires a 
specialized expertise and a multidisciplinary team.