martes, 29 de mayo de 2012

National Guideline Clearinghouse | EFNS guidelines on diagnosis and treatment of primary dystonias.

full-text ►
National Guideline Clearinghouse | EFNS guidelines on diagnosis and treatment of primary dystonias.

Guideline Title

EFNS guidelines on diagnosis and treatment of primary dystonias.

Bibliographic Source(s)

Albanese A, Asmus F, Bhatia KP, Elia AE, Elibol B, Filippini G, Gasser T, Krauss JK, Nardocci N, Newton A, Valls-Sole J. EFNS guidelines on diagnosis and treatment of primary dystonias. Eur J Neurol 2011 Jan;18(1):5-18. PubMed

Guideline Status

This is the current release of the guideline.
This guideline updates a previous version: Albanese A, Barnes MP, Bhatia KP, Fernandez-Alvarez E, Filippini G, Gasser T, Krauss JK, Newton A, Rektor I, Savoiardo M, Valls-Sole J. A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES Task Force. Eur J Neurol 2006 May;13(5):433-44.

Eur J Neurol. 2011 Jan;18(1):5-18. doi: 10.1111/j.1468-1331.2010.03042.x.

EFNS guidelines on diagnosis and treatment of primary dystonias.

Albanese A, Asmus F, Bhatia KP, Elia AE, Elibol B, Filippini G, Gasser T, Krauss JK, Nardocci N, Newton A, Valls-Solé J.

Source

Istituto Neurologico Carlo Besta, Milan, Italy Università Cattolica del Sacro Cuore, Milan, Italy. alberto.albanese@unicatt.it

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 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.