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A 59-year-old man developed worsening mobility over 3 days, described as ‘weakness and swelling’. His mobility had declined over 5 years, starting with ‘unsteadiness’. On admission, he could not stand, whereas a week before he had walked using two walking poles. He had not fallen. There was a 2-year history of hearing loss and of general slowness, and 6 months of a change in voice quality.
On examination, he had waxy, non-pitting oedema particularly of the lower limbs (figure 1). His eye movements showed saccadic intrusions. There was slow speech without overt dysarthria and bilateral sensorineural hearing loss. His lower limbs had normal tone but profound hip flexor weakness (MRC grade 1/5), with absent reflexes despite reinforcement.
The patient’s face and legs.
Investigations included a markedly raised serum creatine kinase (prompting neurology referral), a significant pancytopenia with …
Footnotes
Contributors CP and GC both contributed to the paper.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally reviewed by Martin Turner, Oxford, UK.
Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.
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