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Amyotrophic lateral sclerosis (ALS), commonly known as Lou Gehrig's disease, is a progressive neurodegenerative disorder causing the death of neurons controlling voluntary muscles. It manifests through symptoms like muscle stiffness, twitching, and gradual weakness, often leading to the loss of essential functions such as walking, speaking, and breathing. The majority of cases (90-95%) lack a known cause but are thought to involve genetic and environmental factors, while 5-10% are inherited.
Riluzole is a medication that may slightly extend life expectancy by two to three months, but there is currently no cure for ALS. Some familial cases involve mutations in the copper/zinc superoxide dismutase (SOD-1) gene, and studies using G93A SOD-1 mice have provided insights into the disease's pathology, revealing a correlation between mutant SOD expression and motor neuron degeneration.
Species: Mice
Gene: Male/Female
Disease Relevance: Mutations in superoxide dismutase 1 gene (SOD1) with G93A mutation are linked to amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder predominantly affecting upper and lower motor neurons. Robust muscle weakness can be observed.
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