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Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder marked by muscle weakness, atrophy, fasciculations, and spasticity due to motor neuron degeneration. Symptoms progress from focal weakness to difficulties in speaking, swallowing, and breathing, with eventual paralysis. The disease arises from mechanisms such as disrupted RNA metabolism (e.g., TDP-43 and FUS mutations), cytoskeletal and axonal transport defects (e.g., PFN1, TUBA4A mutations), excitotoxicity, and oxidative stress. While incurable, treatments like Riluzole and Edaravone can modestly slow progression,…mehr

Produktbeschreibung
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder marked by muscle weakness, atrophy, fasciculations, and spasticity due to motor neuron degeneration. Symptoms progress from focal weakness to difficulties in speaking, swallowing, and breathing, with eventual paralysis. The disease arises from mechanisms such as disrupted RNA metabolism (e.g., TDP-43 and FUS mutations), cytoskeletal and axonal transport defects (e.g., PFN1, TUBA4A mutations), excitotoxicity, and oxidative stress. While incurable, treatments like Riluzole and Edaravone can modestly slow progression, and supportive care-such as non-invasive ventilation, feeding tubes, and physical therapy-helps manage symptoms. Emerging therapies, including gene and RNA-targeted approaches, hold promise for the future.
Autorenporträt
Mona Anwar Mohamed El-Bana is an assistant professor in the Medical Biochemistry Department at the National Research Centre's Medical Division. Her role involves advancing the field of medical biochemistry through research and teaching, contributing to scientific discoveries and the education of future professionals.