Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig’s disease, is a progressive neurological disorder that affects nerve cells in the brain and the spinal cord, leading to muscle weakness and atrophy. Overtime, ALS can severely impact mobility, speech, and respiratory function. In India, the prevalence of ALS is relatively low, but it is rising, with an estimated 10,000-15,000 cases nationwide.

Awareness and early diagnosis are crucial for managing symptoms and improving quality of life. If you experience persistent muscle weakness, difficulty speaking, or swallowing, it is important to consult a doctor promptly for an evaluation.

Understanding the exact causes of ALS remains a challenge for medical science. However, research has identified several potential factors that may contribute to the development of this condition:

1. Genetic Factors: Around 5-10% of ALS cases are familial, meaning they are inherited. Specific gene mutations, such as those in the SOD1, C9orf72, and TARDBP genes, have been linked to familial ALS, highlighting the role of genetics in the disease’s onset.

2. Environmental Exposures: Exposure to certain environmental factors, such as heavy metals, pesticides, and chemicals, has been suggested as a possible contributor to ALS. Military veterans, especially those deployed in combat zones, have been found to be at a higher risk, possibly due to environmental exposures during service.

3. Oxidative Stress: The imbalance between free radicals and antioxidants in the body can lead to oxidative stress, damaging nerve cells. This stress is thought to play a role in ALS, particularly in individuals with genetic mutations that affect the body’s ability to manage oxidative stress.

4. Abnormal Protein Aggregation: In ALS, proteins may clump together abnormally within nerve cells, disrupting normal cellular function and leading to cell death. This aggregation is believed to contribute to the progressive degeneration seen in ALS.

5. Excitotoxicity: Nerve cells communicate using neurotransmitters, but in ALS, an excess of the neurotransmitter glutamate can occur, leading to overexcitation and damage to motor neurons. This process, known as excitotoxicity, is considered a significant factor in the disease.

6. Autoimmune Responses: Some studies suggest that ALS may be linked to abnormal immune responses where the body’s immune system mistakenly attacks its own nerve cells, contributing to the neurodegeneration seen in ALS.

These potential causes illustrate the complexity of ALS and highlight the ongoing need for research to better understand the disease and develop effective treatments.

ALS typically begins subtly but progresses relentlessly, affecting the body’s ability to control voluntary muscle movement. Understanding the early and later symptoms can be crucial for timely intervention.

1. Early Symptoms: The initial signs of ALS are often mild and easily overlooked. You might notice muscle weakness or stiffness, particularly in your hands, arms, legs, or speech muscles. Some people experience muscle twitches (fasciculations) in the arms, legs, or tongue. Difficulty with fine motor tasks, such as buttoning a shirt or turning a key, can also be an early indicator.

2. Progressive Muscle Weakness: As ALS advances, the weakness spreads to other parts of the body, making everyday activities increasingly difficult. Walking becomes challenging, and simple tasks like lifting objects or climbing stairs require significant effort. Gradually, the muscles used for speaking, swallowing, and breathing are affected, leading to slurred speech, difficulty swallowing, and shortness of breath.

3. Muscle Atrophy: Over time, muscles that are no longer used begin to shrink and lose their bulk. This atrophy can be visible, with arms or legs appearing thinner or more wasted. Muscle cramps and spasticity (stiffness) may also develop, adding to the physical discomfort.

4. Cognitive and Emotional Changes: While ALS primarily impacts physical functions, some individuals may experience changes in cognitive function, particularly in areas related to decision-making, behaviour, and language. Emotional lability, characterised by sudden, inappropriate episodes of crying or laughing, can also occur.

These symptoms vary from person to person, making ALS a uniquely challenging disease to diagnose and manage. Being aware of these signs and seeking medical advice early can lead to better symptom management and improved quality of life.