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When the Diagnosis Doesn't Fit
Cleveland Clinic
761K subscribers • 14 videos on Rounds • Health institution
- Published by Cleveland Clinic, one of the health institutions Rounds lists. Nobody has recommended it in the communities yet, so it ranks below community picks.
- Presented by Ambreesh Chawla, MD, as the video describes them
Aimed at clinicians, students or researchers. Education, not medical advice.
3.4K views3 months ago
Clinical medicineHow the body worksDiagnosis and clinical reasoningGenetics and genomicsMedical training and practice
Ambreesh Chawla, MD, presents a case where genetic testing revealed Bethlem Myopathy in a patient misdiagnosed with juvenile polymyositis.
To subscribe to the Cleveland Clinic’s Rheumatology Connections eNewsletter, please visit cle.clinic/3BLjd1t Rheumatologist Ambreesh Chawla, MD, presents the case of a 45-year-old woman who carried a diagnosis of juvenile polymyositis for decades after developing muscle weakness and mobility difficulties during childhood. Despite years of treatment with immunosuppressive therapies, her symptoms showed little improvement, prompting a closer evaluation of her diagnosis. During rheumatology assessment, several findings—including longstanding weakness, joint contractures, minimal muscle enzyme elevation and the absence of active inflammation on testing—raised concern for a non-inflammatory muscle disorder. Further evaluation and genetic testing ultimately revealed Bethlem Myopathy, a rare inherited muscular dystrophy caused by a pathogenic variant in the COL6A2 gene. Dr. Chawla is an Associate Professor of Medicine, CCLCM. To learn more about him, please visit cle.clinic/47Ll1It For more information about rheumatology care, please visit cle.clinic/45Tdp5e Like this video? Hit like and subscribe for more! #clevelandclinic #rheumatology #casestudyWhy it's here
From a health institutionCleveland Clinic is on Rounds' list of health institutions, and this upload is one of its most-watched lectures or explainers. Nobody has recommended it in the communities yet, so it ranks below community picks.