Abstract

Objective: To determine the prevalence of HD in five districts of Cañete Valley in order to develop a diagnosis, prevention and genetic counseling plan. Since HD is considered a hereditary disease with low prevalence, epidemiologic studies are scarce and lack genetic confirmation, which is nowadays necessary for the diagnosis of HD.

Methods: A first register of Cañete Valley inhabitants with HD was created in 1983. The population of this area has no access to health care or mass media, and the number of patients seeking for medical care is limited. Therefore, in 2004 we studied families systematically in five districts using the pedigree follow up method, which is ideal to determine the prevalence of genetic diseases and even more in communities like Cañete.

Results: We identified 30 genetically confirmed cases of HD (17 males, 13 females). The population of the five districts reached 66438 inhabitants on August4th, 2004, i.e., a minimum prevalence of 45.1 per 100 000 inhabitants. We obtained 11 pedigrees, including 1397 individuals. Twenty-four (75%) patients were newly diagnosed cases of Huntington’s disease.

Conclusion: Cañete is the second largest focus of Huntington’s disease in Latin America, and one with the highest prevalence reported worldwide

Keywords: Chorea;High prevalence; Huntington’s disease; Peru