Myotonic dystrophy
0:58
YouTubeMedLecturesMadeEasy
Myotonic dystrophy
Pathogenesis: Autosomal dominant CTG trinucleotide repeat expansion Longer repeat length correlating with earlier & more severe disease Presentation: Classic (adult): myotonia & weakness (eg, face, hands, ankles) Childhood: cognitive & behavioral difficulties (classic symptoms develop over time) Infantile: hypotonia, respiratory failure ...
2.5K viewsSep 16, 2023
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3.4K views · 53 reactions | Happy #WorldScienceDay!  We're proud to fund groundbreaking research which aims to learn more about muscle wasting conditions and lead us to new treatments. This year, as part of our President's Awards, we were delighted to present Dr Ami Ketley with the Early Career Scientist Award. Dr Ketley is currently working towards treatment and symptoms for Myotonic Dystrophy. Learn more about our research: https://loom.ly/FkSJwGY | Muscular Dystrophy UK | Facebook
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