Resumo

ESTEBAN BUENO, Gema; RUANO GARCIA, Mónica; GARCIA LUNA, Patricia  e  MOTERO VAZQUEZ, Isabel. The family doctor facing amyotrophic lateral sclerosis. Rev Clin Med Fam [online]. 2016, vol.9, n.1, pp.46-49. ISSN 2386-8201.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with an incidence of 1 - 2 cases per 100,000 persons/year, and a prevalence of 4-6 cases per 100,000 population (3.5 cases per 100,000 population in Spain). Most ALS cases are sporadic but 5-10% of cases are familial with autosomal dominant inheritance. The average age of onset for sporadic ALS is about 60 years. The objective of this case study was to analyze the importance of the role of the Primary Care Doctor in the presumptive diagnosis, referral, monitoring and support of patients with ALS and their families. To that end, we analyzed two clinical cases of the most characteristic types of ALS and the intervention of the attending Primary Care doctors, reflecting that a wider dissemination of the signs and symptoms of ALS may contribute to earlier diagnosis and greater degree of certainty.

Palavras-chave : Amyotrophic Lateral Sclerosis; Rare Diseases; Primary Health Care; Interdisciplinary Communication.

        · resumo em Espanhol     · texto em Espanhol     · Espanhol ( pdf )