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Amyotrophic lateral sclerosis: The El Escorial criteria and the electromyography in its early diagnosis

Abstract:

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease of unknown etiology characterized by death of motor neurons. In the last 20 years, over 25 ALS genes were discovered. 10% of cases are considered to be familial cases (FALS) with the majority inherited as autosomal dominant. In Western countries, ALS is considered an adult onset disease with a mean age of 65, while in developing countries onset is approximately 10 years earlier. Similarly, survival is reportedly on average 9 months less in South America compared to Europe and North America. ALS is more frequent in males than females with an incidence in Europe and North America of 1.5 to 2.7 cases per 100,000 individuals and a prevalence of 2.7 to 7.4 (/100,000 individuals). Preliminary studies in the Caribbean and South America suggest a lower incidence of ALS in these regions. The diagnosis of ALS is based on signs and symptoms of degeneration of upper and lower motor neurons, the absence of alternative explanations, and progression of symptoms. Electrophysiology is essential for early diagnosis, in addition to other neuroimaging and laboratory tests. In this review, we summarize the literature concerning the El Escorial criteria for diagnosis and the electromyography.