Genealogical study of oculopharyngeal muscular dystrophy in France

This work is based on 54 probands affected by oculopharyngeal muscular dystrophy (OPMD). The muscle biopsy of all these patients showed the presence of the intranuclear inclusions, specific of this disease. The residence of the probands is concentrated in three clusters: the Paris, Marseilles and Bordeaux regions. The genealogical study was carried out on 43 probands, 10 of which did not have any ascendance in France for more than two generations. The geographic origin of the 33 patients of French descent was distributed over numerous regions, not including the Paris and Marseilles regions where many patients lived. This geographic dispersion and the rarity of common genealogies of the probands, did not suggest the existence of a recent founder effect, in contrast to what is observed in the French-Canadian community. The existence of a link between French and French-Canadian families is currently being investigated.