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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Gastric hypomotility in Duchenne's muscular dystrophy.

In Duchenne's muscular dystrophy, functional impairment of smooth muscle in the gastrointestinal tract can cause acute gastric dilatation and intestinal pseudo-obstruction that may be fatal. We describe a patient with this syndrome who at autopsy had smooth-muscle degeneration of the stomach. To provide objective evidence of functional smooth-muscle impairment in Duchenne's dystrophy, we performed gastric-emptying studies in 11 patients and 11 normal controls, using technetium-99m radionuclide scintigraphy in a test meal of oatmeal. The patients with Duchenne's dystrophy had delayed gastric-emptying times (118.18 +/- 32.21 minutes [mean +/- SEM]) as compared with controls (42.5 +/- 3.4 minutes, P less than 0.01). The cause of the pathological and functional abnormalities we describe in smooth muscle is unknown but may be a deficiency of dystrophin, the recently identified gene product of the Duchenne's muscular dystrophy locus.[1]


  1. Gastric hypomotility in Duchenne's muscular dystrophy. Barohn, R.J., Levine, E.J., Olson, J.O., Mendell, J.R. N. Engl. J. Med. (1988) [Pubmed]
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