In this episode Dr Lorna Hack speaks to Dr Anirban Majumdar about Spinal Muscular Atrophy, and the remarkable advances made in managing this condition in the twenty-first century.
Dr Majumdar is a Consultant Paediatric Neurologist at the Bristol Royal Hospital for Children, and delivers the regional Neuromuscular Service.
We discuss: the genetic basis of SMA, the targets of disease modifying treatments, the pros and cons that guide treatment choice, and monitoring of treatment efficacy.
Music by AlexGrohl from Pixabay
Main article: https://adc.bmj.com/content/108/Suppl_2/A199
Further articles:
https://adc.bmj.com/content/108/7/511
https://adc.bmj.com/content/109/5/395
Resources: https://smareachuk.org/
Dr Majumdar’s book recommendations: ‘Yellowface’ by R. F. Kuang, ‘The Women of Troy’ by Pat Barker, ‘Song of Achilles’ and ‘Circe’ by Madeline Miller, and ‘The Spanish Civil War’ by Antony Beevor.
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