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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe the clinical features of 103 patients presenting with fixed dystonia and report the prospective assessment and investigation of 41 of them. Most patients were female (84%) and had a young age of onset [mean 29.7 (SD 13.1) years]. A peripheral injury preceded onset in 63% and spread of dystonia to other body regions occurred in 56%. After an average follow-up of 3.3 years (overall disease duration 8.6 years), partial (19%) or complete (8%) remission had occurred in a minority of patients. The fixed postures affected predominantly the limbs (90%), and rarely the neck/shoulder region (6%) or jaw (4%). In the prospectively studied group, pain was present in most patients and was a major complaint in 41%. Twenty percent of patients fulfilled criteria for Complex Regional Pain Syndrome (CRPS). No consistent investigational abnormalities were found and no patient tested (n = 25) had a mutation in the DYT1 gene. Thirty-seven percent of patients fulfilled classification criteria for documented or clinically established psychogenic dystonia; 29% fulfilled DSM-IV (Diagnostic and statistical manual of mental disorders, 4th edition) criteria for somatization disorder, which was diagnosed only after examination of the primary care records in many cases; and 24% fulfilled both sets of criteria. Ten percent of the prospectively studied and 45% of the retrospectively studied patients did not have any evidence of psychogenic dystonia, and detailed investigation failed to reveal an alternative explanation for their clinical presentation. Detailed, semi-structured neuropsychiatric assessments in a subgroup of 26 patients with fixed dystonia and in a control group of 20 patients with classical dystonia revealed dissociative (42 versus 0%, P = 0.001) and affective disorders (85 versus 50%, P = 0.01) significantly more commonly in the fixed dystonia group. Medical and surgical treatment was largely unsuccessful. However, seven patients who underwent multidisciplinary treatment, including physiotherapy and psychotherapy, experienced partial or complete remission. We conclude that fixed dystonia usually, but not always, occurs after a peripheral injury and overlaps with CRPS. Investigations are typically normal, but many patients fulfil strict criteria for a somatoform disorder/psychogenic dystonia. In a proportion of patients, however, no conclusive features of somatoform disorder or psychogenic disorder can be found and, in these patients, whether this disorder is primarily neurological or psychiatric remains an open question. Whilst the prognosis is overall poor, remissions do occur, particularly in those patients who are willing and able to undergo multidisciplinary treatment including physiotherapy and psychotherapy, suggesting that this type of treatment should be recommended to these patients.
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PMID:The syndrome of fixed dystonia: an evaluation of 103 patients. 1578 46

Gilles de la Tourette syndrome (GTS) is characterized by multiple motor and vocal tics. Adult-onset cases are rare and may be due to "reactivation" of childhood tics, or secondary to psychiatric or genetic diseases, or due to central nervous system lesions of different etiologies. Late-onset psychogenic motor/vocal tics resembling GTS have been described. Neurophysiology may serve to differentiate organic from functional GTS. Altered blink reflex pre-pulse inhibition (BR-PPI), blink reflex excitability recovery (BR-ERC), and short-interval intracortical inhibition (SICI) have been described in GTS. We report a 48-years-old male, who developed numerous motor/vocal tics 2 months after sustaining non-commotional craniofacial trauma in a car accident. Both his father and brother had died earlier in car crashes. He presented with blepharospasm-like forced lid closure, forceful lip pursing, noisy suction movements, and deep moaning sounds, occurring in variable combinations, without warning symptoms or internal "urge." Tics showed low distractibility and these increased with attention. Standard magnetic resonance imaging, electroencephalography, and evoked potentials were unremarkable. Neuropsychology diagnosed moderately impaired intellect, attention, and executive functions. Psychiatric assessment revealed somatization disorder and generalized anxiety. BR-PPI was unremarkable, while BR-ERC was enhanced, even showing facilitation at short intervals. SICI was markedly reduced at 1 and 3 ms and intracortical facilitation (ICF) was enhanced at 10 ms. The patient fulfilled Fahn and Williams' diagnostic criteria for a psychogenic movement disorder. Neurophysiology, however, documented hyperexcitability of motor cortex and brainstem. We suggest that-similar to what has been reported in psychogenic dystonia-a pre-existing predisposition may have led to the functional hyperkinetic disorder in response to severe psychic stress.
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PMID:Adult-Onset Gilles de la Tourette Syndrome: Psychogenic or Organic? The Challenge of Abnormal Neurophysiological Findings. 3113 Sep 12