Amyotrophic Lateral Sclerosis Clinical Trial
Official title:
Amyotrophic Lateral Sclerosis: a New Paradigm
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. ;
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