ALS: Understanding Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig’s, is a progressive neurodegenerative disease that affects the nerve cells in the brain, as well as the spinal cord. The area it impacts handles voluntary muscle movement, which leads to muscle twitches and difficulty with motor skills. Roughly 30,000 Americans are living with ALS, with 5,000 new diagnoses each year.

Currently, there is not a cure for ALS, which is why raising awareness, sharing knowledge, and understanding the disease is imperative.

What Does ALS Do to the Brain?

ALS affects the way the brain communicates with our muscles, which motor neurons are responsible for. Motor neurons act as messengers; they carry signals from the brain and spinal cord to your muscles, telling them when you need to walk, smile, speak, button your shirt, and everything else.

When someone develops ALS, those motor neurons slowly begin to die. As they degenerate, the brain can no longer properly communicate with the muscles, which leads to muscle weakness, twitching, issues with everyday activities, and eventually leads to paralysis.

Types of ALS

There are two main types of ALS. Symptoms and progression can vary greatly between individuals.

• Sporadic ALS: Sporadic ALS accounts for about 90% of diagnoses. The causes are believed to be a combination of genetic, biological, and environmental factors, though the exact cause is still unknown.
• Familial ALS (FALS): About 10% of ALS diagnosis cases are inherited through mutations in specific genes. This means that the mutations can be passed down from parent to child. There is a 50% chance that the mutation will be inherited, though that does not mean the individual will develop ALS.

ALS can also be categorized by how it presents itself:

• Limb-onset ALS: Limb-onset ALS starts to affect the muscles in the hands, arms, feet, or legs first, usually with weakness in the dominant hand. About two-thirds of ALS diagnosis present with limb-onset ALS.
• Bulbar-onset ALS: Begins with difficulties in speaking, swallowing, or facial movement. The bulbar muscles, located in the head and neck, control these functions. About one-third of cases begin with this type.

There are also more rare types of ALS:

• Juvenile ALS: Extremely rare,  developing in individuals under the age of 25,  with less than 1,000 diagnoses in the USA.
• ALS-Parkinsonism-Dementia Complex 1: Believed to be caused by consumption of cycad seeds. Recently, this type of ALS has decreased due to decreased consumption of cycad seeds.

How Is ALS Diagnosed?

There is no single test that can detect ALS. Clinicians rely on their observations and use tests and screenings to rule out other potential diagnosis. Receiving a diagnosis of ALS can become a lengthy process that may take months.

Common tools and tests include:

• Electromyography (EMG): EMGs allow clinicians to test the electrical activity of the muscles to assess nerve function.
• Nerve conduction studies: Frequently paired with an EMG, nerve conduction studies test the body’s ability to send messages to muscles throughout the body.
• MRI scans: MRIs are used to see if there are any abnormalities that could be causing symptoms rather than ALS.
• Blood tests: Looking at levels of proteins in the blood can help clinicians identify other diagnoses.
• Spinal Tap (Lumbar Puncture): Spinal fluid can look different in individuals who have ALS. This can help when a diagnosis of ALS is suspected. 
• Muscle & Nerve Biopsy: A small sample may be taken for lab analysis if ALS is suspected.

Early diagnosis can help patients access resources, plan for care, and begin treatment to slow disease progression.

Who Is at Risk?

Several risk factors may increase the likelihood of developing ALS:

• Age: Most cases occur between the ages of 40 and 70
• Sex: Men younger than the age of 65 have a slightly higher risk of a diagnosis. The gap narrows with age and disappears after 70.
• Genetics: Having a family member with ALS increases the chances of developing ALS.
• Military Service: Though it is unknown why individuals who served in the military have a higher chance of developing ALS, it is believed it's due to mix environmental exposures, injuries, or extreme physical exertion.
• Smoking: Individuals who smoke have a higher likelihood of receiving an ALS diagnosis, particularly among women.
• Environment: It is believed that exposure to chemicals or toxins could increase the risk of a diagnosis, though there has not been a specific agent associated with increased risk.

What Are the Symptoms?

ALS symptoms vary from person to person and include:

• Muscle twitching (fasciculations), especially in arms, legs, or tongue
• Slurred speech
• Difficulty with fine motor skills (holding a pen or buttoning a shirt)
• Feeling weakness in hands, arms, legs, or feet
• Difficulty walking
• Muscle cramping
• Trouble swallowing or chewing (dysphagia)
• Fatigue

As ALS progresses, symptoms may worsen. People who have ALS can lose the ability to walk, talk, or eat without help.

Treatments for ALS

Though there is not currently a cure for ALS, there are several FDA approved treatments that can help slow down the progression and help with overall quality of life.

• Medications: There are oral and intravenous drugs that can help regulate the generation of neurotransmitters and help slow down functional decline.  
• Related Services: Physical, occupational, and speech therapy can help individuals find adaptations and learn ways to stay independent.
• Mental Health Support: Counseling and mental health services can help patients and families cope emotionally with the challenges of ALS.
• Breathing Care: Individuals who have ALS may eventually need help breathing. It is important to speak with your physician about what non-invasive breathing options are appropriate.

Spreading Awareness

Spreading awareness about ALS means more than just knowing the name, it’s about recognizing the signs, challenging the myths, and standing with those affected. ALS doesn’t only run in families; it can impact anyone, and the toll it takes is both heartbreaking and life-altering. As the disease progresses, people often face increasing pain, loss of mobility, and emotional strain. That’s why it’s so important to share real facts, talk openly, and support research. The more people understand ALS, the closer we get to better treatments, and eventually, a cure.