ALSM

ALSM, or Amyotrophic Lateral Sclerosis, is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord. It is characterized by the gradual degeneration of motor neurons, which are responsible for controlling voluntary muscles. This degeneration leads to muscle weakness, atrophy, and eventually paralysis. ALSM is typically diagnosed in individuals between the ages of 40 and 70, although it can occur at any age.

The exact cause of ALSM is unknown, but it is believed to result from a combination of genetic and environmental factors. The disease is often familial, with a significant genetic component, but sporadic cases also occur. The most common genetic mutation associated with ALSM is the C9orf72 repeat expansion, which accounts for about 40% of cases. Other genetic mutations, such as those in the SOD1 gene, are also associated with ALSM.

Symptoms of ALSM include muscle weakness and wasting, fasciculations (involuntary muscle twitches), and difficulty swallowing, speaking, and breathing. The disease progresses over time, with patients typically dying within 2 to 5 years of diagnosis. There is currently no cure for ALSM, but various treatments aim to manage symptoms and improve quality of life. These may include medications to slow disease progression, respiratory support, and physical therapy.

ALSM is a rare disease, with an estimated incidence of 1.5 to 2 cases per 100,000 people per year. It affects both men and women equally. The disease is named after the French neurologist Jean-Martin Charcot, who first described it in 1869, and the German neurologist Alois Alzheimer, who independently described a similar condition in 1911. Despite its rarity, ALSM is a significant public health concern due to its devastating impact on patients and their families.