EFNS guidelines on diagnosis and treatment of primary dystonias

Abstract

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 craniocervical 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.

Cervical dystonia caused by focal putaminal ischemia

“…Due to the fact that several studies indicate a weaker effect of DBS for the treatment of secondary dystonia in comparison to primary forms,18, 19 conventional treatment regimen with botulinum toxin was preferred.…”

Cervical sensorimotor control in idiopathic cervical dystonia: A cross‐sectional study

“…Main reasons for nonparticipation were lack of time ( n  =   7), no interest in the study ( n  =   3), or lack of informed consent ( n  =   16). All patients were diagnosed by an experienced neurologist in accordance with the European Federation of Neurological Societies/Movement Disorders Society European Section (EFNS/MDS‐ES) guidelines (Albanese et al., 2011) and received regular treatments of botulinum toxin injections. The assessment took place at least 3 months after the last injection, immediately prior to a new injection of botulinum toxin when the clinical effect of the injection was no longer present.…”

“…Dystonic movements are typically patterned, twisting and may be tremulous and is frequently accompanied by pain (Albanese et al., 2011; Jinnah & Albanese, 2014). It is the most common form of focal dystonia with a prevalence in Europe ranging from 44 to 183 cases per million (Defazio, Jankovic, Giel, & Papapetropoulos, 2013).…”

“…It is the most common form of focal dystonia with a prevalence in Europe ranging from 44 to 183 cases per million (Defazio, Jankovic, Giel, & Papapetropoulos, 2013). Treatment of choice is injections with botulinum toxin (Albanese et al., 2011) and physical therapy is often used as an adjuvant therapy (De Pauw et al., 2014). …”

A History of Dystonia: Ancient to Modern

“…Since then, over 20 genetically defined dystonia subtypes have been described, and many more inherited degenerative conditions are recognized to possess dystonia as part of their broader phenotype. After international meetings of dystonia experts (Florence in 2009 and Barcelona in 2011), recommendations for the classification of dystonia were generated with categorization arranged along two axes: etiology and clinical presentation 68, 69. It seems unlikely that this will be the final word on nosology, for the repackaging has not obliterated old fault lines that exist where psychiatric disorders border dystonia.…”