Medicine and Health Sciences Commons^™

Utility And Yield Of Genetic Testing Leading To A Definitive Neuromuscular Or Neuropathic Diagnosis At A Rural Outpatient Neurology Clinic Affiliated With A University Health Center In West Virginia Over 4 Years., Holly Farkosh, Dominika Lozowska

Marshall Journal of Medicine

Introduction

Clinicians are increasingly relying on genetic testing to pinpoint definite diagnoses. A more general diagnosis of neuropathy or neuromuscular disease like myopathy can be narrowed down substantially using genetic testing. Because carrier status is of utmost importance in reproductive matters, pathogenic results can prognosticate the future course of the illness and help plan ahead for treatment and social supports. Given the expense of genetic testing, it is important to assess the cost-benefit ratio to determine whether it is worthwhile to collect genetic samples. The purpose of the study was to determine the likelihood of obtaining a conclusive confirmatory diagnosis …

Anti-N-Methyl-D-Aspartate Receptor Encephalitis: A Diagnosis Obscured By Concomitant Recreational Drug Use, Paige Lester Ms Ii, Adam M. Franks Md, William Rollyson Ms Iv, Jenna K. Barbour Md, Matthew B. Curry Md

Marshall Journal of Medicine

Anti-NMDA receptor encephalitis (aNMDAre) is a relatively newly discovered autoimmune and inflammatory disorder affecting the limbic system. It has a clinical course that includes Prodromal, Psychiatric, Unresponsive and Hyperkinetic stages. These stages are often confused with mental health issues in the medical literature, but they also share symptoms of various drug intoxication and withdrawal states. Implicit bias in physicians regarding substance use disorder and patient demographics can impair delivery of care and outcomes in patients with aNMDAre, especially in an environment of recreational drug use. When clinical presentation aligns, this diagnosis should be investigated as soon as possible, even in …