Chapter

Generalized primary dystonia

Ivan Donaldson, C. David Marsden, Susanne A. Schneider and Kailash P. Bhatia

in Marsden's Book of Movement Disorders

Published on behalf of Oxford University Press

ISBN: 9780192619112
Published online January 2012 | e-ISBN: 9780199698103 | DOI: http://dx.doi.org/10.1093/med/9780192619112.003.0924
Generalized primary dystonia

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The first description of this condition is attributed to Destarac (1901), who reported a 17-year-old girl with torticollis, tortipelvis, writer’s cramp, and spasmodic talipes equinovarus. Currently, the names generalized primary dystonia and idiopathic torsion dystonia have come to be preferred to ‘dystonia musculorum deformans’. The criteria for diagnosis were suggested by Herz (1944[b]) and have subsequently been modified (Marsden and Harrison 1974). The present criteria are based on these and consist of 1) a disorder comprised of dystonic postures and movements (excluding isolated focal dystonias such as cephalic dystonia, spasmodic torticollis, and writer’s cramp, 2) an unremarkable perinatal and early development period, 3) no history of illness or exposure to drugs known to be associated with dystonia before the onset of the disease, 4) absence of pyramidal, cerebellar, sensory, or pronounced intellectual abnormality, 5) negative investigations for other diseases that can cause dystonia, including studies of copper metabolism and CT or MRI brain scan, and 6) absence of other recognizable diseases causing dystonia. Treatment of dystonia itself is all too often only partially effective and there is unpredictable patient-to-patient variation in response. It is usually necessary to sequentially try a range of drugs. Trials should be conducted gradually, increasing to maximum dose slowly and allowing a prolonged period on each agent before regarding it as ineffective. Such trials usually take a number of years. Unfortunately some patients show little, if any, response to all available drugs, or side effects may outweigh benefits of treatment. l -dopa appears to have been dramatically effective in a small number of patients (Barrett et al. 1970, Chase 1970, Coleman 1970, Garg 1982). However, the majority of patients do not seem to benefit from this treatment. Stereotactic thalamotomy has been shown to reduce involuntary movements, as has deep brain stimulation. Additional therapeutic and management strategies are discussed, as are other primary forms of dystonia.

Chapter.  23178 words.  Illustrated.

Subjects: Neurology

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