Amyotrophic Lateral Sclerosis (ALS) is a degenerative neuromuscular disease, progressing inexorably to respiratory failure, the by involvement of respiratory muscles, the commitment with most impact on the prognosis of ALS.

According to current knowledge, the clinical presentation of the disease is characterized by spinal or bulbar involvement, the latter being associated with a worse prognosis.

There are multiple factors described in the aetiology of ALS, as the successive damage the motor neuron, which can happen in high-impact athletes, or exposure to heavy metals. Genetic mutations are also described, being associated to a higher prevalence of ALS.

Data from retrospective studies with ALS populations reveal a prevalence of 4-8 cases per 100,000 persons. Research carried out in Trás-os-Montes e Alto Douro region (Northeast of Portugal) shows a high prevalence of ALS, with near 10 cases per 100,000 persons, with a recent increase in the bulbar involvement. The reasons for the high prevalence of ALS in this region are unknown.

The objective of this research is to pursue potentially involved genetic mutations in this disease (new or previously described), in addition to carry out a epidemiological questionnaire including data on personal history, environmental and occupational exposure that might be underlying this high prevalence.

Inclusion Criteria:

• All patients with Amyotrophic Lateral Sclerosis sent to a medical consultation

Exclusion Criteria:

• Amyotrophic Lateral Sclerosis not confirmed
• Ages less than 18 years old

Patients with Amyotrophic Lateral Sclerosis sent to a medical consultation

Research results will be shared with the scientific community through the publication of 2 to 3 papers in medical journals, as well as through the participation in national and international conferences. Whenever requested by the participants, the individual data resulting from clinical examinations will be provided.