What is Amyotrophic Lateral Sclerosis (ALS)?

From the Guidelines

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord, causing the death of motor neurons which control voluntary muscles, leading to muscle weakness, stiffness, and eventually atrophy. As the disease progresses, patients lose the ability to speak, eat, move, and breathe independently. ALS typically begins with muscle weakness, twitching, or stiffness in a limb, or slurred speech, and gradually spreads to other parts of the body. Most people with ALS have a life expectancy of 2-5 years after diagnosis, though some may live longer. There is no cure for ALS, but treatments like riluzole and edaravone can help slow disease progression, as noted in recent studies 1. Riluzole typically is prescribed at 50mg twice daily and may extend survival by a few months. Supportive care including physical therapy, speech therapy, respiratory support, and assistive devices are crucial for maintaining quality of life. ALS is believed to result from a combination of genetic and environmental factors, with about 5-10% of cases being hereditary. Early diagnosis and multidisciplinary care are essential for managing symptoms and maintaining quality of life for as long as possible, with a focus on equitable access to affordable multidisciplinary care, services, and caregiver support, as emphasized in the 2024 National Academies of Sciences, Engineering, and Medicine report 1.

Some key aspects of ALS management include:

• Nutritional support, with a focus on preventing malnutrition and maintaining a healthy weight, as malnutrition is a prognostic factor for survival in ALS patients 1
• Swallowing assessment and management, with the use of techniques such as postural maneuvers and dietary modifications to reduce the risk of aspiration, as recommended in the ESPEN guideline on clinical nutrition in neurology 1
• Respiratory support, with the use of non-invasive ventilation and other interventions to maintain respiratory function, as noted in the ESPEN guideline on clinical nutrition in neurology 1
• Physical and speech therapy, to maintain muscle function and communication abilities, as part of a multidisciplinary care approach 1

Overall, the management of ALS requires a comprehensive and multidisciplinary approach, with a focus on maintaining quality of life and reducing the risk of complications, as emphasized in the recent study by the National Academies of Sciences, Engineering, and Medicine 1.

From the Research

Definition and Characteristics of Amyotrophic Lateral Sclerosis (ALS)

• Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects the motor neurons of the brain and spinal cord 2, 3, 4, 5, 6.
• It is characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem, and spinal cord 4.
• ALS occurs in about 1 in 100,000 individuals, with an incidence of approximately 1.89 per 100,000/year and a prevalence of approximately 5.2 per 100,000 in Western countries 2, 4.

Symptoms and Progression of ALS

• The mean age of onset for sporadic ALS is about 60 years, with a slight male prevalence (M:F ratio approximately 1.5:1) 4.
• Approximately two-thirds of patients with typical ALS have a spinal form of the disease (limb onset) and present with symptoms related to focal muscle weakness and wasting 4.
• Patients with bulbar onset ALS usually present with dysarthria and dysphagia for solid or liquids, and limb symptoms can develop almost simultaneously with bulbar symptoms 4.
• Paralysis is progressive and leads to death due to respiratory failure within 2-3 years for bulbar onset cases and 3-5 years for limb onset ALS cases 4.

Diagnosis and Management of ALS

• The diagnosis of ALS is based on clinical history, examination, electromyography, and exclusion of 'ALS-mimics' by appropriate investigations 4, 6.
• The management of ALS is supportive, palliative, and multidisciplinary, with non-invasive ventilation prolonging survival and improving quality of life 4.
• Riluzole is the only drug that has been shown to extend survival, and symptomatic treatments have an important role in controlling the major consequences of the disease 2, 3.