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Before a diagnosis of idiopathic torsion dystonia is made, it is imperative to exclude other causes of dystonia Perinatal anoxia, birth trauma, and kernicterus are common causes of dystonia, but abnormal movements usually then develop before the age of 5, the early development of the patient is usually abnormal, and a history of seizures is not unusual Moreover, examination may reveal signs of mental retardation or pyramidal deficit in addition to the movement disorder Dystonic posturing may also occur in Wilson s disease, Huntington s disease, or parkinsonism; as a sequela of encephalitis lethargica or previous neuroleptic drug therapy; and in certain other disorders In these cases, diagnosis is based on the history and accompanying clinical manifestations
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Idiopathic torsion dystonia usually responds poorly to drugs Levodopa, diazepam, baclofen, carbamazepine, amantadine, or anticholinergic medication (in high dosage) is occasionally helpful; if not, a trial of treatment with phenothiazines or haloperidol may be worthwhile In each case, the dose has to be individualized, depending on response and tolerance However, the doses of these latter drugs that are required for benefit lead usually to mild parkinsonism Stereotactic thalamotomy is sometimes helpful in patients with predominantly unilateral dystonia, especially when this involves the limbs The usefulness of deep brain stimulation is under study A distinct variety of dominantly inherited dystonia, mapping to a genetic locus on chromosome 14q, is remarkably responsive to levodopa
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Bhidayasiri R Dystonia: genetics and treatment update Neurologist 2006 Mar;12(2):74 85 [PMID: 16534444] Bressman S Genetics of dystonia J Neural Transm Suppl 2006;(70):489 95 [PMID: 17017572]
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6 Myoclonus
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Occasional myoclonic jerks may occur in anyone, especially when drifting into sleep General or multifocal myoclonus is common in patients with idiopathic epilepsy and is especially prominent in certain hereditary disorders characterized by seizures and progressive intellectual decline, such as the lipid storage diseases It is also a feature of various rare degenerative disorders, notably Ramsay Hunt syndrome, and is common in subacute sclerosing panencephalitis and Creutzfeldt-Jakob disease Generalized myoclonic jerking may accompany uremic and other metabolic encephalopathies, result from therapy with levodopa or cyclic antidepressants, occur in alcohol or drug withdrawal states, or follow anoxic brain damage It also occurs on a hereditary or sporadic basis as an isolated phenomenon in otherwise healthy subjects Segmental myoclonus is a rare manifestation of a focal spinal cord lesion It may also be the clinical expression of epilepsia partialis continua, a disorder in which a repetitive focal epileptic discharge arises in the contralateral sensorimotor cortex, sometimes from an underlying structural lesion An electroencephalogram is often helpful in clarifying the epileptic nature of the disorder, and CT or MRI scan may reveal the causal lesion
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5 Focal Torsion Dystonia
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A number of the dystonic manifestations that occur in idiopathic torsion dystonia may also occur as isolated phenomena They are best regarded as focal dystonias that either occur as formes frustes of idiopathic torsion dystonia in patients with a positive family history or represent a focal manifestation of the adult-onset form of that disorder when there is no family history Mapping of responsible genes to chromosome
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Myoclonus may respond to certain anticonvulsant drugs, especially valproic acid, or to one of the benzodiazepines, particularly clonazepam (see Table 24 3) It may also respond to piracetam (up to 168 g daily) Myoclonus following anoxic brain damage is often responsive to oxitriptan (5-hydroxytryptophan), an investigational agent that is the precursor of serotonin, and sometimes to clonazepam Oxitriptan is given in gradually increasing doses up to 1 15 mg daily In patients with segmental myoclonus, a localized lesion should be searched for and treated appropriately
Caviness JN et al Myoclonus: current concepts and recent advances Lancet Neurol 2004 Oct;3(10):598 607 [PMID: 15380156] Jimenez-Jimenez FJ et al Drug-induced myoclonus: frequency, mechanisms and management CNS Drugs 2004;18(2):93 104 [PMID: 14728056]
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