Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Complex regional pain syndrome (CRPS) is a syndrome usually localized in the extremities, mostly occurring after a preceding trauma or operation. Dystonia is present in a minority of CRPS patients, but, when present, leads to severe disability. Various pathological factors have been postulated to present in CRPS-dystonia, such as involvement of the sympathetic system, reorganization of the central nervous system, and psychological distress. In the present study, we investigated the involvement of psychological distress in CRPS-dystonia with the aid of the Symptom Checklist-90 Revised (SCL-90R) questionnaire. The SCL-90R is a multidimensional self-report inventory covering various dimensions of psychological distress. In a population of 1006 CRPS patients, we analyzed the SCL-90R scores of 27 patients with CRPS-dystonia (23 female and 4 male) and compared the scores to sample scores of a control female (n = 577) and a control rehabilitation population (n = 56). Insomnia scored significantly higher in the female CRPS-dystonia population, as compared to the control female population (P < 0.001), and in the total CRPS-dystonia population, as compared to the rehabilitation population (P < 0.01). Remarkable was the significantly higher score of somatization in the rehabilitation population, as compared to the CRPS-dystonia population (P = 0.006). For the other dimensions of psychological distress of the SCL-90R, the scores of the CRPS-dystonia and control populations were similar. With regard to the SCL-90R scores, we conclude that specific psychological profiles are not present in CRPS-dystonia.
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PMID:The Symptom Checklist-90 Revised questionnaire: no psychological profiles in complex regional pain syndrome-dystonia. 1035 14

Fourteen patients with "dystonic clenched fist" (three with Corticobasal Ganglionic Degeneration, seven with Parkinson's disease, and four with Dystonic-Complex Regional Pain Syndrome) were treated with botulinum toxin A (BTXA, Dysport). The muscles involved were identified by the hand posture and EMG activity recorded at rest and during active and passive flexion/extension movements of the finger and wrist. EMG was useful in distinguishing between muscle contraction and underlying contractures and to determine the dosage of BTX. All patients had some degree of flexion at the proximal metacarpophalangeal joints and required injections into the lumbricals. The response in patients depended on the severity of the deformity and the degree of contracture. All patients had significant benefit to pain, with accompanying muscle relaxation, and palmar infection, when present, was eradicated. Four patients with Parkinson's disease and one patient with Dystonia-Complex Regional Pain Syndrome obtained functional benefit.
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PMID:Treatment of dystonic clenched fist with botulinum toxin. 1174 21

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

Complex Regional Pain Syndrome Type-I (CRPS-I) is a neuropathic pain syndrome resulting from complex pain mechanisms that involve several levels and components of the nervous system. CRPS-I consists of multiple signs, including autonomic dysfunction, in the form of edema, vasomotor changes, motor dysfunctions, muscle spasms, tremors and dystonia, as well as burning pain, hypersensitivity and allodynia that could present in any combination. The treatment is progressive physical therapy rehabilitation program. Multiple analgesic modalities have been used to facilitate the rehabilitation program with varying rates of success. The most successful treatment is a multi-disciplinary comprehensive approach, where initial pain control allows for physical and psychological interventions that are believed to be the basis for successful treatment.(1) The pain in CRPS-I may be mediated through the sympathetic nervous system, sympathetic maintained pain (SMP) or sympathetic independent pain (SIP)(2).
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PMID:Epidural infusion of opiates and local anesthetics for Complex Regional Pain Syndrome. 1714 82

Complex regional pain syndrome (CRPS) may lead to movement disorders (MDs) in some patients. Reliable information on the nature, chronology and clinical determinants of MDs in CRPS patients is lacking but could provide better insight in to the underlying pathophysiological mechanism. We retrospectively evaluated the clinical and temporal characteristics of MDs in patients with CRPS. Cox's proportional hazards model was used to evaluate factors influencing the onset of MDs. One-hundred and eighty-five patients suffered CRPS in one or more extremities. MDs occurred in 121 patients, with dystonia (91%) being the most prevalent. Sixty-two percent of these patients displayed dystonia in multiple extremities. Patients with dystonia were on average 11 years younger and more often had CRPS in multiple extremities. The interval between the onset of CRPS and dystonia in the first affected extremity varied from less than 1 week in 26% of the patients to more than 1 year in 27%. The hazard of developing dystonia in subsequent extremities increased with the number of extremities affected by dystonia. We conclude that dystonia in CRPS shows highly variable onset latency and is associated with younger age at onset and increased risk of developing dystonia in other extremities. The delayed onset and progression of dystonia in CRPS may indicate the involvement of a different underlying mechanism, possibly associated with maladaptive neuroplasticity.
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PMID:Onset and progression of dystonia in complex regional pain syndrome. 1749 24

The pathogenesis of dystonia in Complex Regional Pain Syndrome type 1 (CRPS-1) is unclear. In primary dystonia, functional magnetic resonance imaging (fMRI) has revealed changes in cerebral networks during execution of movement. The aim of this study was to determine cerebral network function in CRPS-1 patients with dystonic postures. Cerebral processing related to both execution and imagining of hand movements in patients and controls was assessed with fMRI. Eight CRPS-1 patients with dystonic postures of the right upper extremity and 17 age-matched healthy controls were studied. Compared with controls, imaginary movement of the affected hand in patients showed reduced activation ipsilaterally in the premotor and adjacent prefrontal cortex, and in a cluster comprising frontal operculum, the anterior part of the insular cortex and the superior temporal gyrus. Contralaterally, reduced activation was seen in the inferior parietal and adjacent primary sensory cortex. There were no differences between patients and controls when they executed movements, nor when they imagined moving their unaffected hand. The altered cerebral activation pattern in patients with CRPS-1 linked dystonia most likely reflects an interface between pain-associated circuitry and higher order motor control, which points at a specific mechanistic pathophysiology of this type of dystonia.
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PMID:Cerebral activation during motor imagery in complex regional pain syndrome type 1 with dystonia. 1756 45

Complex Regional Pain Syndrome (CRPS) is clinically characterized by pain in combination with sensory, autonomic, and motor symptoms that may include weakness, tremor, myoclonus and dystonia of the affected limb(s). The syndrome is multifactorial in origin and mostly attributed to tissue injury. There is some evidence that the human leukocyte antigen (HLA) system plays a role in the pathophysiology of CRPS, but previous studies lacked power. Here we performed the most extensive study investigating the contribution of HLA alleles (i.e. HLA-A, HLA-B, HLA-DRB1, and HLA-DQB1) in 150 CRPS patients who also had fixed dystonia. HLA-B62 (OR=2.05 [95% CI 1.41-2.99], P=0.0005) and HLA-DQ8 (OR=1.75 [95% CI 1.20-2.57], P=0.005) were found significantly associated with CRPS and dystonia. The association remained significant after correction (HLA-B62 P(corrected) [P(c)] = 0.02 and HLA-DQ8 P(c)=0.04). The involvement of HLA-B62 and HLA-DQ8 in CRPS with dystonia may indicate that these HLA loci are implicated in the susceptibility or expression of the disease.
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PMID:HLA-B62 and HLA-DQ8 are associated with Complex Regional Pain Syndrome with fixed dystonia. 1952 67

Complex regional pain syndrome is a condition that usually affects the upper or lower extremities. The cause is not clearly understood. We report a case of a severe form of a rapidly progressive complex regional pain syndrome type I developing after a right shoulder injury managed with spinal cord stimulation (SCS). After failed conservative treatments, a rechargeable SCS system was implanted in the cervical spine. Allodynia and dystonia improved but the patient subsequently developed similar symptoms in lower right extremity followed by her lower left extremity. The patient became wheelchair bound. A second rechargeable SCS with a paddle electrode was implanted for the lower extremity coverage. The patient's allodynia and skin lesions improved significantly. However, over time, her initial symptoms reappeared which included skin breakdown. Due to the need for frequent recharging, the system was removed. During explantation of the surgical paddle lead, it was noted by the neurosurgeon that the contacts of the paddle lead were detached from the lead. After successful implantation of another SCS system, the patient was able to reduce her medications and is now able to ambulate with the use of a left elbow crutch.
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PMID:A severe case of complex regional pain syndrome I (reflex sympathetic dystrophy) managed with spinal cord stimulation. 1986 48

Complex regional pain syndrome type 1 (CRPS-1) is a chronic pain disorder that in some patients is associated with fixed dystonia. The pathogenesis of CRPS and its relation to dystonia remain poorly understood. Several genes (so-called DYT genes) identified in other causes of dystonia play a role in mechanisms that have been implicated in CRPS. Because different mutations in the same gene can result in diverse phenotypes, we sequenced all coding exons of the DYT1, DYT5a, DYT5b, DYT6, DYT11, DYT12, and DYT16 genes in 44 CRPS patients with fixed dystonia to investigate whether high-penetrant causal mutations play a role in CRPS. No such mutations were identified, indicating that these genes do not seem to play a major role in CRPS.
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PMID:Systematic mutation analysis of seven dystonia genes in complex regional pain syndrome with fixed dystonia. 2006 31

Complex regional pain syndrome (CRPS), formerly known as Sudeck's dystrophy and causalgia, is a disabling and distressing pain syndrome. We here provide a review based on the current literature concerning the epidemiology, etiology, pathophysiology, diagnosis, and therapy of CRPS. CRPS may develop following fractures, limb trauma or lesions of the peripheral or CNS. The clinical picture comprises a characteristic clinical triad of symptoms including autonomic (disturbances of skin temperature, color, presence of sweating abnormalities), sensory (pain and hyperalgesia), and motor (paresis, tremor, dystonia) disturbances. Diagnosis is mainly based on clinical signs. Several pathophysiological concepts have been proposed to explain the complex symptoms of CRPS: (i) facilitated neurogenic inflammation; (ii) pathological sympatho-afferent coupling; and (iii) neuroplastic changes within the CNS. Furthermore, there is accumulating evidence that genetic factors may predispose for CRPS. Therapy is based on a multidisciplinary approach. Non-pharmacological approaches include physiotherapy and occupational therapy. Pharmacotherapy is based on individual symptoms and includes steroids, free radical scavengers, treatment of neuropathic pain, and finally agents interfering with bone metabolism (calcitonin, biphosphonates). Invasive therapeutic concepts include implantation of spinal cord stimulators. This review covers new aspects of pathophysiology and therapy of CRPS.
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PMID:Complex regional pain syndromes: new pathophysiological concepts and therapies. 2018 Aug 38


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