Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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 (CRPS) is quite uncommon in paediatric patients. There is no identified organic aetiology. CRPS has a very significant psychosomatic component; therefore it is necessary to take a multidisciplinary approach to its treatment, which should include psychiatric assessment. CRPS is very difficult to diagnose, and can take months to control its symptoms. The association with myoclonus is rare, and since myoclonus is the clinical manifestation of a vast spectrum of different neurological disorders, some of which are degenerative, it is important to make a diagnosis as quickly as possible. We present the case of an adolescent male with an atypical presentation of CRPS. CRPS was located in the thorax, which is very unusual and was associated with myoclonus and dystonias. This made the diagnosis harder and widened the aetiological spectrum.
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PMID:[Complex regional pain syndrome and myoclonus: an uncommon combination]. 2201 53

Complex regional pain syndrome (CRPS) is a poorly understood pain disorder of the limbs. Maladaptive cortical plasticity has been shown to play a major role in its pathophysiological presentation. Recently, there is increasing interest in the role of the basal ganglia (BG), since clinical findings and neuroimaging studies point to possible BG involvement in CRPS. CRPS symptoms are often characterized by movement disorders associated with BG dysfunction. Very frequently, dystonia and tremor are reported and, to a lesser extent, myoclonus. Neuroimaging studies present inconsistent findings concerning altered brain networks and mainly focus on cortical areas. Subcortical contribution to this disorder has so far been neglected. Clinical data presenting BG dysfunction-related movement disorders in CRPS patients raise the hypothesis of BG dysfunction in this syndrome. Moreover, several neuroimaging studies documented abnormalities in the BG and in the frontal, parietal and limbic cortical areas. These regions are functionally and anatomically connected in motor, pain and working memory networks. Put together, these findings call for further characterization of the dynamic cortical and subcortical interactions in CRPS.
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PMID:Basal ganglia dysfunction in complex regional pain syndrome - A valid hypothesis? 2780 69