Article Text
Abstract
1. Please consider the following:
A 50 year-old man presented with a two year history of behavioural changes and slowness. His MRI is shown below. His mother had died from ‘paralysis’.
What is the diagnosis ?
2. Please read the following passage.
You receive a telephone call regarding a 30 year-old man about to undergo incision and drainage of a pilonidal abscess under general anaesthetic. His father had died unexpectedly following an appendicectomy. This led the anaesthetist to ask him some questions about his muscles. He said he had never been great at sport and he was the one who always dropped the ball in his family. The anaesthetist asks you whether this is relevant:
(a) What would be the best way to confirm the diagnosis ?
EMG
Muscle biopsy
Genetic test
Plasma creatine kinase level
Other
(b) What would you advise the anaesthetist?
(i)
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