Understanding ALS

As of 2017, the Centers for Disease Control and Prevention (CDC) estimated that there are over 31,000 patients living with ALS throughout the United States. And on average, approximately 5,000 new patients are diagnosed every year with this disease. But what exactly is ALS?

What is ALS?

Amyotrophic Lateral Sclerosis, commonly abbreviated as “ALS,” is often referred to as "Lou Gehrig's disease” because of the renowned baseball player Lou Gehrig, who was diagnosed with this condition in 1939. His career was abruptly cut short due to the progression of ALS, and his public battle with this disease raised awareness and brought attention to this condition. Lou Gehrig's prominence and the impact of his diagnosis contributed to ALS being commonly associated with his name.

ALS is a progressive neurological disease that affects nerve cells in your brain and spinal cord. This condition primarily impacts your motor neurons responsible for controlling voluntary muscle movement, leading to muscle weakness, paralysis, and eventually respiratory failure.

This condition does not impact cognitive abilities or sensory functions, including vision or hearing, and it’s not contagious. However, unfortunately, there is still no known cure for ALS.

What causes ALS?

The exact cause of ALS is not yet fully understood. ALS is a complex disease, and its development is likely influenced by a combination of genetic and environmental factors.

In what ways does ALS impact my body?

ALS primarily affects the motor neurons in your brain and spinal cord, leading to a progressive loss of muscle function and control throughout your body. The exact symptoms and progression can vary from person to person, but common effects of ALS include the following:

• Muscle Weakness: ALS causes muscle weakness, beginning in specific areas and gradually spreading to other regions of your body. It may typically begin in your limbs, including your hands, arms, legs, and/or feet, and may eventually affect the muscles involved in speech, swallowing, and/or breathing.
• Muscle Atrophy: Over time, the affected muscles begin to shrink and weaken due to the loss of nerve signals. This leads to muscle atrophy, resulting in reduced muscle mass and strength.
• Spasticity: Some individuals with ALS may experience spasticity, which is described as muscle stiffness, tightness, and/or involuntary muscle contractions. As a result, this can make movement and coordination more difficult.
• Difficulty Speaking and Swallowing: ALS can affect the muscles responsible for speech and swallowing. As this disease progresses, you may experience slurred speech, difficulty articulating words, and/or problems with chewing and swallowing your meals and/or drinks.
• Breathing Difficulties: As ALS affects the muscles involved in breathing, you may experience shortness of breath, and/or respiratory weakness, and eventually require assistance with breathing through mechanical ventilation.
• Fatigue and Exhaustion: The combination of muscle weakness and the effort required to compensate for impaired movement can lead to increased fatigue and exhaustion in those with ALS.

Are there different types of ALS?

Yes, there are different types of ALS based on the patterns of symptoms and the affected areas of your body. The 2 main types of ALS include the following:

Sporadic ALS (SALS)

Sporadic ALS is the most common form, accounting for approximately 90-95% of all ALS cases. It occurs randomly without a clear family history or genetic link. It’s important to note that sporadic ALS can affect anyone, regardless of their family background or genetics.

Familial ALS (FALS)

On the other hand, familial ALS is an inherited form of the disease and accounts for about 5-10% of cases. It’s caused by specific gene mutations that are passed down through families. Individuals with FALS have a higher likelihood of having a family history of ALS or related neurodegenerative disorders.

It's important to keep in mind that regardless of the type, ALS is characterized by the progressive degeneration of motor neurons, resulting in muscle weakness, paralysis, and eventually respiratory failure. However, the primary distinction lies in the presence or absence of a clear genetic link or family history of the disease.

What are the signs and symptoms of ALS?

Signs and symptoms of ALS can vary from person to person. Some common signs and symptoms of ALS that you should be aware of include the following:

• Muscle weakness: Gradual muscle weakness, usually beginning in your limbs, including arms or legs, is a hallmark symptom of ALS. It can affect tasks like gripping objects, walking, and/or climbing stairs.
• Muscle twitching, also commonly referred to as fasciculations: Involuntary muscle twitching or fasciculations may occur, often in your arms, legs, and/or tongue.
• Muscle cramps and stiffness: Individuals with ALS may experience muscle cramps and stiffness, which can be uncomfortable or painful.
• Impaired speech and swallowing: As ALS progresses, muscles involved in speech and swallowing may be affected, leading to slurred speech, also called dysarthria, and difficulties with swallowing, also called dysphagia.
• Weakness in hands and arms: Fine motor skills, including writing, buttoning clothes, or using utensils, may become challenging due to weakness in your hands and arms.
• Weakness in legs and/or feet: Walking, balance, and other movements depending on leg and foot muscles can be affected by weakness and instability.
• Difficulty breathing: As ALS affects the muscles involved in breathing, you may experience shortness of breath, reduced respiratory function, and eventually require assistance with breathing.
• Fatigue and exhaustion: Due to the increased effort required for movements and compensating for muscle weakness, those with ALS may experience fatigue and exhaustion more easily.

If you or someone you know is experiencing these symptoms, it’s important to consult a healthcare professional for a proper evaluation and diagnosis.

Are there risk factors for ALS?

Several factors that have been identified as potential risk factors for the disease include the following:

• Age: ALS can affect individuals of any age, but it most commonly develops between the ages of 40 and 70, with the risk increasing with age.
• Genetics: A small percentage of ALS cases, approximately 5-10%, are familial ALS (FALS) caused by specific gene mutations inherited from family members. Several genes, such as SOD1 and FUS, have been linked to familial ALS.
• Environmental factors: Certain environmental factors may play a role in ALS risk, although the evidence is not definitive. These factors include exposure to toxins, heavy metals, pesticides, and/or traumatic injuries.
• Smoking: Cigarette smoking has been associated with an increased risk of developing ALS.

However, having one or more risk factors does not guarantee the development of ALS, and individuals without any known risk factors can still develop this disease.

When should I call my healthcare provider?

If you’re experiencing symptoms or concerns that are indicative of ALS, it’s important to consult with your doctor. Your healthcare provider will be able to evaluate your symptoms, perform necessary exams, and provide appropriate guidance or referrals for further evaluation if ALS is suspected. It’s important to remember that early detection and diagnosis can be crucial in managing ALS effectively.