What is it about?
This paper describes a hitherto unreported manifestation - a muscular disease - of a clinical case of Alström's syndrome, which is an extremely rare genetic disease. Alström's syndrome, in general, manifests with a combination of some or many of the following features - retinal dystrophy, insulin resistance, diabetes, obesity, hearing loss, kidney dysfunction, liver dysfunction, etc.
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Why is it important?
This is the first report of a clinical picture of severe, recurrent and disabling muscle cramps (a myopathy possibly) involving the whole body and responding to steroid therapy, in a clinical case of Alström's syndrome.
Perspectives
Diabetes in youngsters presents a clinical challenge. Not all young diabetes patients have type 1 diabetes. Type 2 diabetes in increasing in prevalence. Beyond the known clinical diagnoses, there's another area of the little known syndromes which have diabetes as one of the components. The recognition of these syndromes by itself is crucial as this will lead to the detection of the additional features of the syndromes, which will considerably reduce the morbidity and mortality.
Dr Charles Bronson
Stanley Medical College
Read the Original
This page is a summary of: Diabetes in the young – a case of Alström syndrome with myopathy, The Journal of the Royal College of Physicians of Edinburgh, January 2015, Royal College of Physicians of Edinburgh,
DOI: 10.4997/jrcpe.2015.108.
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