Amyotrophic lateral sclerosis: update

Abstract

Amyotrophic lateral sclerosis is a neurodegenerative disease with devastating consequences for the patient and his/her family. Its etiology is still not clear. In about 10 % of the patients there is a hereditary pattern of the disease. Worldwide, prevalence ranges from 2 to 11 cases per 100,000 people. Age of presentation varies from 58 to 63 years for sporadic cases, and from 47 to 52 years for the familial ones. Concerning gender, there is a slight preference for males. Clinical manifestations include signs of upper and lower motor neurons, damage in limbs and bulbar muscles, and, in some patients, frontotemporal cognitive dysfunction. Diagnosis is essentially clinical supported by neurophysiological studies, such as needle electromyography, which is the most important test for early diagnosis. There is no cure, but riluzol has proven to delay the use of mechanical ventilation and to slightly prolong survival. Consequently, management is based on support measures, such as those related to nutrition and ventilatory function, in addition to control of the motor and non-motor symptoms of the disease.

Keywords

• Amyotrophic Lateral Sclerosis
• Epidemiology
• Motor Neuron Disease
• Signs and Symptoms
• Diagnosis
• Therapeutics