ALIMENTARY TRACT WEST LIVER DIS 2002;34:484-8 Gastric emptying in myotonic dystrophic patients M. Bellini P. Alduini F. Costa C. Tosettil L. Pasquab F. Pucciani2 A. Tornar C. Mammini G. Siciliano3 G. Maltinti S. Marchi Department of Internal Medicine, Gastroenterology Unit, Llniversky of Pisa; I General Practitioner; Porratta Terme; 2 Department of General Surgary; University of Florence; 3 Department of Neuroscience, University of Pise. Italy. Addmsa inr cmoIII(wIce Dr. M. Eellini, Dipartimento di Medicina Interna, Sezione Gastroenterologia, Dspedale “S. Chiere”. via Roma 67, 56126 Pisa, Italy. Fax: +39-050-993050. E-mail: mbellini@int.med. unipi.it SubmirCed October 2, 2001. Accepted after revision January 19, 2002, Background. Myotonic dystrophy is often associated with digestive symptoms that can precede the clinical appearance of skeletal muscle involvement. Although motility disorders may be observed in these pa- tients at any level of the gastrointestinal tract, upper gastrointestinal symptoms have up to now usually been considered to be due to oe- sophageal rather than gastric dysmotility Aims. To evaluate: a) gastric emptying in myotonic dystrophic patients without dyspeptic symptoms, and b) relationship between gastric emp- tying and severity and duration of the disease. Patients and Methods. Gastric emptying was evaluated in 11 non-dys- peptic dystrophic patients and in 22 healthy volunteers by means of computerised ultrasound scan, assessing the variation in the antral area over time after ingestion of a meal. Results. The final emptying time was higher in patients than in healthy volunteers (373&35’ vs 270’247’; p<O. OOI]. Basal and maximal post- prandial antral areas were similar in the two groups. There was a sig- nificant correlation between gastric emptying and the duration of the disease (rs=O. 62; p=O. 04). No relationship was found between gastric emptying and severity of the disease. Conclusions. Gastric emptying may be abnormally delayed in myotonic dystrophy patients, even in absence of dyspeptic symptoms. This delay is correlated with duration but not with severity of the disease. Howev- ec there is no difference in either basal or maximal postprandial antral areas between myotonic dystrophy patients and healthy volunteers. Digest Liver 4is 2002;34:484-8 Key words: dyspepsia; gastric emptying; myotonic dystrophy Introduction Myotonic dystrophy (MD) is a genetic disease with an autosomal dominant inheritance. Although MD is primarily characterised by myotonic phenom- ena and progressive muscular weakness, multisystem involvement is often present, including cardiac conduction abnormalities, cognitive deficits, cataracts, and diabetes, as well as gastric, endocrine, sexual and reproduc- tive disturbances I. The disease is caused by an unstable trinucleotide repeat expansion containing cytosine-thymidine-guanosine (CTG)“, located in the 3’ untranslated region of chromosome 19q13.3. The CTG trinucleotide is repeated in the normal population from 5 up to 36 times * 3, but has been found to be expanded up to 2000 times in patients with MD 4 5, this ampli- fication being correlated to the severity of the disease. Patients can be clus- tered in four groups based on the number of CTG repeats: E 1 (50- 100 CTG) includes patients with either the minor or the classical form of MD, E2 (500- 1000 CTG) only patients with the classical form, E3 (1000-1500 CTG) patients with childhood onset of the classical form, and E4 (>1500 CTG) patients affected by the congenital form of MD 6. The involvement of the smooth muscle in MD is well documented and dif- ferent histologic studies have shown the presence of changes similar to 484