A family with at least six members affected by hollow organ visceral myopathy is described. Patients in the first or second decades of life developed symptoms which included weight loss, nausea and vomiting, abdominal pain and distension, constipation and diarrhoea, and urinary symptoms. The radiological features of the disease consisted of oesophageal aperistalsis, megaduodenum, and variable dilatation of the small and large bowel. Four patients had urinary tract involvement with dilatation of the ureters and/or incomplete bladder emptying. Two patients were severely affected and needed home parenteral nutrition and surgical treatment; others were symptomatic but remained well. The characteristic pathological abnormality was vacuolar degeneration predominantly affecting the longitudinal muscle. The disease in this family appears to be transmitted by autosomal dominant mode of inheritance.
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.