[2 unusual cases of myotonic dystrophy, the first presenting as Thomsen's disease, the second with pharyngoesophageal motility disorders leading to broncho-pulmonary complications].
Two rather special cases of myotonic dystrophy are described. The first concerns a 35-year-old woman, in whom the generalized myotonia and the early commencement of the disease (at the age of 2 years) led to the diagnosis of Thomsen's disease until a specific myotonic cataract was discovered at the age of 26. The consanguinity of the patient's parents may partly explain the "intermediary" nature of the clinical picture and suggests, in this case, an autosomal recessive heredity. The second patient, a 27-year-old man, suffered, in addition, from changes in the pharyngo-esophageal motility, leading to a deviation of the alimentary flux which was disclosed by cineradiography and which was responsible for repeated broncho-pulmonary infections. The authors discuss the problem of the differential diagnosis between Thomsen's disease and Steinert's disease and emphasize the importance of a biomicroscopic examination of the lenses to detect the abortive and pre-clinical forms of myotonic dystrophy. They point out that digestive troubles are sometimes the first symptoms of which the patient complains, and stress, in this connexion, the plurisymptomatic nature of Steinert's disease.
D000328:Adult; D002386:Cataract / Q000150:complications; D003241:Consanguinity; D003679:Deglutition; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007908:Lens, Crystalline / Q000032:analysis; D008297:Male; D009224:Myotonia Congenita / Q000175:diagnosis*; D009223:Myotonic Dystrophy / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree
Deux cas remarquables de dystrophie myotonique, le prémier à début thomsenien, le second avec des troubles de la motilité pharyngo-oesophagienne entraînant des complications broncho-pulmonaires