Pre PACES Podcast #30 Myotonic dystrophy
Mar 13, 2022
Dr. Tom Minton, a neurology registrar and PhD candidate, dives deep into myotonic dystrophy, discussing its genetics, symptoms, and crucial clinical signs. He shares insights on conducting thorough cranial and peripheral nerve examinations, highlighting gold star signs to look for. Tom also addresses differential diagnoses and the importance of multidisciplinary management. Additionally, he tackles a fun quiz on Wales, showcasing his light-hearted side amidst serious medical topics.
AI Snips
Chapters
Transcript
Episode notes
Genetics And Core Features
- Myotonic dystrophy is an autosomal dominant multi-system disorder with progressive muscle weakness, myotonia, and early cataracts.
- It has two genetic types: type 1 (CTG repeat, strong anticipation) and type 2 (ZNF9 tetranucleotide repeat, less anticipation).
Prioritise Visual Clues First
- On short neurology exams, prioritise visible clues like frontal balding, mild bilateral ptosis, and myopathic facial features early.
- Use these early signs to direct a focused exam rather than attempting a full neurologic exam in the time limit.
Patient Tilting Head Because Of Ptosis
- Dr Sam Williams recalled a patient with mild ptosis who tilted their neck back to see during conversation.
- This small behavioural clue can hint at functional visual limitation from ptosis during an exam.