How Advances in Genetics / Genomics are leading to Novel Treatments for Rare Diseases
Frohman, Dafni F.
2019
- Children and adolescents with suspected sensory abnormalities receive only limited information from clinical diagnoses about the pathophysiological mechanisms underlying their symptoms that could help to guide treatment choice. Neuropathic pain is not generated by a single mechanism, but rather by multiple mechanisms operating together, resulting in a phenotypic heterogeneity.4 As pain mechanisms ... read moreare multifaceted, and symptoms may be experienced to differing degrees, one approach to obtaining more information on neuropathic pain is to study the extremes of hyper- and hyposensitivity. While there are many pain conditions that may be classified as hypersensitivity, this study has focused on erythromelalgia. Quantitative sensory testing (QST), a group of non-invasive procedures that assess the sensory responses to systematically-applied and quantifiable sensory stimuli, could better phenotype these patients, resulting in more effective diagnosis and therapeutic outcome.7 The aim of this exploratory investigation was to use QST to phenotype patients with suspected hyposensitivity or erythromelalgia to expand our knowledge and better categorize different sensory profiles. Specifically, the study involved determining sensory profiles within the subject population and correlating the sensory profiles of subjects with those of their immediate family and normal ranges. Such correlations will provide the basis for a more detailed diagnosis of the sensory abnormalities and allow for a more precise treatment regimen.read less
- ID:
- gb19fj83t
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