To review the literature on
primary dystonia and
dystonia plus and to provide evidence-based recommendations.
Primary dystonia and
dystonia plus are chronic and often disabling conditions with a widespread spectrum mainly in young people. Computerized MEDLINE and EMBASE literature reviews (1966-1967 February 2005) were conducted. The Cochrane Library was searched for relevant citations. Diagnosis and classification of
dystonia are highly relevant for providing appropriate management and prognostic information, and genetic counselling. Expert observation is suggested. DYT-1 gene testing in conjunction with genetic counselling is recommended for patients with
primary dystonia with onset before age 30 years and in those with an affected relative with early onset. Positive genetic testing for
dystonia (e.g. DYT-1) is not sufficient to make diagnosis of
dystonia. Individuals with
myoclonus should be tested for the
epsilon-sarcoglycan gene (DYT-11). A
levodopa trial is warranted in every patient with early onset
dystonia without an alternative diagnosis. Brain imaging is not routinely required when there is a confident diagnosis of
primary dystonia in adult patients, whereas it is necessary in the paediatric population.
Botulinum toxin (BoNT) type A (or type B if there is resistance to type A) can be regarded as first line treatment for primary cranial (excluding oromandibular) or
cervical dystonia and can be effective in writing
dystonia. Actual evidence is lacking on direct comparison of the clinical efficacy and safety of
BoNT-A vs. BoNT-B. Pallidal
deep brain stimulation (DBS) is considered a good option, particularly for generalized or
cervical dystonia, after medication or BoNT have failed to provide adequate improvement. Selective peripheral
denervation is a safe procedure that is indicated exclusively in
cervical dystonia. Intrathecal
baclofen can be indicated in patients where
secondary dystonia is combined with spasticity. The absolute and comparative efficacy and tolerability of drugs in
dystonia, including
anticholinergic and antidopaminergic drugs, is poorly documented and no evidence-based recommendations can be made to guide prescribing.