Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.3.1.107 (DAT)
 1,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Camptocormia is characterised as an extreme bent-forward posture of the trunk that disappears in the recumbent position. On X-ray, trunk flexion appears without vertebral rotation as in scoliosis. The condition is a well-known complication of Parkinson's disease (PD) at the late stage. The authors present the case of a 77-year-old woman affected by severe camptocormia, which appeared and worsened in less than 6 months and hindered gait. Despite no signs of PD, neuro-imaging (DAT-Scan) showed an L-Dopa transducer decrease in putamens. A few weeks later, bradykinesia appeared and the clinical diagnosis of PD became more obvious. L-Dopa improved bradykinesia but did not change the bent-spine posture. A 1-year follow-up showed no other signs of PD other than bradykinesia, but the camptocormia was unchanged.
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PMID:[Camptocormia disclosing Parkinson's disease]. 1702 15

Although the understanding of dystonia has improved in recent years, primary dystonia is still insufficiently recognized and patients may not receive the correct diagnosis, leading to transient or permanent misclassification of their symptoms. We reviewed cases of primary dystonia who were at first misdiagnosed and analyzed the reasons why the correct diagnosis was first missed and later retained. Primary dystonia is misdiagnosed mainly, but not exclusively, in favor of other movement disorders: Parkinson's disease (PD), essential tremor, myoclonus, tics, psychogenic movement disorder (PMD), and even headache or scoliosis. Accounts are more numerous for PD and PMD, where diagnostic tests, such as DAT scan and psychological assessment, support clinical orientation. The correct diagnosis was achieved in all cases following the recognition of inconsistencies in the first judgment and of distinctive clinical features of dystonia. These clues have been collected here and assembled into a diagnostic epitome.
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PMID:The diagnostic challenge of primary dystonia: evidence from misdiagnosis. 2062 66