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of the usual psychologic features of hysteria, and the emerging character of the illness is the correct diagnosis made Dystonia may be limited to the facial, cervical, or trunk muscles or to those of one limb, and it may cease when the body is in repose Severe instances result in grotesque movements and distorted positions of the body; sometimes the whole musculature seems to be thrown into spasm by an effort to move an arm or to speak Causes of Dystonia Generalized dystonia is seen in its most pronounced form as an uncommon heritable disease, dystonia musculorum deformans, in which case it is associated with a speci c mutation in the DYT1 gene on chromosome 9 (page 929) It was in relation to this disease that Oppenheim and Vogt, in 1911, introduced the term dystonia Dystonia also occurs as a manifestation of many other diseases ( symptomatic dystonias ) The latter include double athetosis due to hypoxic damage to the fetal or neonatal brain, kernicterus, Hallervorden-Spatz disease, Huntington disease, Wilson hepatolenticular degeneration, Parkinson disease, lysosomal storage diseases, striatopallidodentatal calci cation (due sometimes to hypoparathyroidism), and thyroid disease and exposure to neuroleptic drugs, as discussed below Widespread torsion spasm may also be a prominent feature of certain rare heredodegenerative disorders, such as familial striatal necrosis with affection of the optic nerves and other parts of the nervous system (Marsden et al, Novotny et al) A distinct subset of patients with an idiopathic dystonia (described by Nygaard et al) has responded to extremely small doses of L-dopa The disease is familial, usually autosomal dominant, and the dystonia-athetosis may be combined with elements of parkinsonism Marked diurnal uctuation of symptoms is characteristic In one autopsied case there was hypopigmentation of the substantia nigra This process, goes by a number of names, including L-dopa responsive dystonia and Segawa disease It has been traced to a mutation in the Parkin gene (page 930) Another rare hereditary dystonia that has its onset in adolescence or early adulthood is of interest because of the rapid evolution, at times within an hour but more often over days, of severe dystonic spasms, dysarthria, dysphagia, and postural instability with bradykinesia, which may follow (Dobyns et al) A few cases have followed a febrile episode The disorder is termed rapid-onset dystonia-parkinsonism It is our understanding that the latter features are mild and not responsive to L-dopa These hereditary forms of dystonia are discussed in Chap 39 Restricted or fragmentary forms of dystonia (dyskinesias) are the types most commonly encountered in clinical practice Characteristically the spasms involve only the orbicularis oculi and face or mandibular muscles (blepharospasm-oromandibular dystonia), tongue, cervical muscles (spasmodic torticollis), hand (writer s cramp), or foot These are described more fully in Chap 6 as well as in Chap 39 Hemidystonia represents an unusual form of acquired movement that, in our experience, is rarely pure In an analysis of 33 of their own cases and 157 previously published ones, Chuang and colleagues found stroke, mainly in the opposite putamen, to be most often responsible Traumatic and perinatal damage accounted for several cases and a large proportion had no lesions found by imaging tests There was a delay of several years between the injury and the start of the movements; these authors also commented on the resistance of this syndrome to drug treatment The most frequent cause of acute generalized dystonic reactions is exposure to the class of neuroleptic drugs phenothiazines, butyrophenones, or metoclopramide and even with the newer agents such as olanzipine, which has the advantage of producing these side effects less frequently than the others A highly char-. asp.net pdf 417 ASP . NET PDF-417 Barcode Generator - Generate 2D PDF417 in ...
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