ALS Association

Amyotrophic Lateral Sclerosis (ALS)

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Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig's disease, is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually leads to their demise.

Pathophysiology

In ALS, the motor neurons degenerate and die, which leads to the loss of voluntary muscle action. This results in muscle weakness and atrophy. The exact cause of ALS is not known, but it is believed to involve a combination of genetic and environmental factors. Mutations in several genes, such as SOD1, C9orf72, and TARDBP, have been associated with familial ALS.

Symptoms

The symptoms of ALS can vary significantly from person to person. Early symptoms may include muscle weakness or stiffness. As the disease progresses, individuals may experience increased muscle weakness, atrophy, and paralysis. Common symptoms include:

• Difficulty walking or doing normal daily activities
• Tripping and falling
• Weakness in the legs, feet, or ankles
• Hand weakness or clumsiness
• Slurred speech or trouble swallowing
• Muscle cramps and twitching in the arms, shoulders, and tongue

Diagnosis

Diagnosing ALS can be challenging as there is no single test for the disease. Diagnosis is primarily based on a detailed history and physical examination, along with a series of diagnostic tests to rule out other conditions. These tests may include:

• Electromyography (EMG)
• Nerve conduction study
• Magnetic resonance imaging (MRI)
• Blood and urine tests
• Spinal tap (lumbar puncture)

Treatment

There is currently no cure for ALS, but treatments can help manage symptoms and improve quality of life. The FDA-approved drug Riluzole has been shown to slow the progression of the disease. Other treatments focus on relieving symptoms and may include:

• Physical therapy
• Occupational therapy
• Speech therapy
• Nutritional support
• Breathing support

Prognosis

The progression of ALS can vary, but the disease is generally progressive and fatal. The average life expectancy after diagnosis is two to five years, although some people may live longer. The rate of progression can vary widely among individuals.

Related pages

• Motor neuron disease
• Neurodegenerative disease
• Lou Gehrig
• Stephen Hawking