Introduction

This information is designed to help you better understand amyotrophic lateral sclerosis (ALS), a complex and challenging disease. It will explain the condition in simple terms and offer guidance and support as you navigate this journey. It is important to remember that every individual's experience with ALS is unique, and this information should be considered a starting point for your own learning and discussions with your healthcare team.

What is ALS?

Amyotrophic lateral sclerosis (ALS), often called Lou Gehrig's disease, is a disease that primarily affects the nerve cells in your brain and spinal cord that control voluntary muscle movement. However, it can also involve other parts of the nervous system [1]. These nerve cells, called motor neurons, allow you to move, speak, eat, and breathe [2]. It's important to note that ALS only affects voluntary muscle movements, meaning it doesn't impact involuntary functions like your heartbeat or digestion [3]. In ALS, these motor neurons gradually degenerate and die [3]. This means that the messages from your brain don't reach your muscles properly, leading to weakness, stiffness, and eventually, paralysis [4].

ALS is a progressive disease, meaning it gets worse over time [1].  It does not affect your senses (like sight, hearing, or touch), and it usually doesn't affect your thinking or memory [1].

Breaking Down the Medical Terms

The name "amyotrophic lateral sclerosis" may seem daunting, but understanding what each word means can make it less intimidating. Let's break it down [6]:

• Amyotrophic: This comes from Greek words meaning "no muscle nourishment." Imagine your motor neurons as delivery trucks carrying essential supplies to your muscles. In ALS, these trucks break down, and the muscles don't receive the nourishment they need to function correctly, leading to weakness and wasting away.
  
  

• Lateral: This refers to the location of the damaged nerve cells in the spinal cord. If you picture the spinal cord as a highway, these cells are like lanes on the sides of the highway.
  
  

• Sclerosis: This means "hardening" and refers to the scarring that occurs in the spinal cord as nerve cells die. Think of it like potholes forming on the highway, disrupting the smooth flow of traffic.

Symptoms of ALS

ALS can start in different ways for different people. Some people first notice weakness in their arms or legs, while others may have trouble speaking or swallowing [7]. Common early symptoms include:

• Muscle weakness or stiffness: This can make it difficult to perform everyday tasks like buttoning your shirt, turning a doorknob, or walking up stairs.
  
  

• Slurred speech: This can make it hard to communicate clearly with others and can affect social interactions.
  
  

• Difficulty swallowing: This can make it challenging to eat and drink, and may increase the risk of choking or aspiration.
  
  

• Muscle cramps or twitches: These can be painful and may occur in the arms, legs, or tongue.
  
  

• Unintentional weight loss: This can occur due to muscle wasting or difficulty swallowing.

As the disease progresses, these symptoms worsen, and new symptoms may appear. These can include:

• Difficulty chewing: This can make it hard to eat a variety of foods and may require changes to your diet [8].
  
  

• Drooling: This can occur due to weakness in the muscles that control swallowing [8].
  
  

• Shortness of breath: This can occur as the muscles involved in breathing weaken [8].

Eventually, people with ALS may lose the ability to walk, talk, eat, and breathe on their own [8].

How is ALS Diagnosed?

Diagnosing ALS can be challenging because its symptoms can be similar to those of other neurological conditions. Doctors use a variety of tests to rule out other diseases and confirm an ALS diagnosis. These tests may include:

• Neurological examination: This involves checking your reflexes, muscle strength, coordination, and sensation.
  
  

• Electromyography (EMG): This test measures the electrical activity in your muscles.
  
  

• Nerve conduction study (NCS): This test measures how well your nerves transmit signals.
  
  

• Magnetic resonance imaging (MRI): This imaging test creates detailed pictures of your brain and spinal cord.
  
  

• Blood and urine tests: These tests can help rule out other conditions.

Treatment Options

Currently, there is no cure for ALS [1]. However, there are treatments available that can help manage symptoms, slow the progression of the disease, and improve quality of life. These treatments may include:

Medications

• Riluzole (Rilutek), edaravone (Radicava), sodium phenylbutyrate-taurursodial (Relyvrio), and Qalsody (tofersen) are FDA-approved medications that may help slow the progression of ALS [1].
  
  

• Other medications can help manage symptoms such as muscle cramps, spasticity, and excessive saliva [10].

Therapies

• Physical therapy can help maintain muscle strength and flexibility [10].
  
  

• Occupational therapy can help you adapt to daily tasks as your abilities change.
  
  

• Speech therapy can help with communication difficulties.
  
  

• Respiratory therapy can help with breathing problems.
  
  

• Nutritional counseling can ensure you get the nutrients you need [10].

Supportive care

• This includes a wide range of services to help you and your family cope with the physical and emotional challenges of ALS.

Prognosis and Coping

The prognosis for ALS varies from person to person [11]. The average life expectancy after diagnosis is two to five years, but some people live much longer [7]. Factors that may affect prognosis include age at onset, the location of initial symptoms, and the rate of disease progression [12]. While ALS affects physical abilities, it generally doesn't impair cognitive function, so you can continue to engage in activities that stimulate your mind and bring you joy [13].

Coping with ALS is an ongoing process. It's important to allow yourself time to adjust to the diagnosis and grieve the losses you may experience [14]. Remember that you are not alone. There are people who care about you and want to help.

Clinical Trials and Research Studies

Researchers are constantly working to find new treatments and a cure for ALS [15]. Clinical trials are research studies that test new drugs and therapies in people. Participating in a clinical trial can give you access to promising new treatments and contribute to the advancement of ALS research [15]. One notable example is the HEALEY ALS Platform Trial, an innovative approach that allows researchers to test multiple drugs simultaneously, accelerating the discovery of effective treatments [16].

There are also many research studies that are not clinical trials. These studies may involve observing people with ALS over time, collecting biological samples, or studying genetic factors [15]. For example, one study is investigating the changes that occur in biomarkers (measurable indicators of change in the body) when people with ALS take Radicava [17]. These studies help researchers learn more about the disease and develop new treatments.

Resources for Patients and Families

There are many organizations that provide support and resources for people with ALS and their families. Here are a few:

• The ALS Association: Provides support, resources, and advocacy for people with ALS and their families.
  Website: www.alsa.org
  
  

• The Muscular Dystrophy Association (MDA): Offers support groups, clinics, and research funding for ALS.
  Website: www.mda.org
  
  

• ALS TDI: A non-profit organization dedicated to finding a cure for ALS.
  Website: www.alstdi.org
  
  

• Compassionate Care ALS (CCALS): Offers a holistic range of services for people with ALS and their families.
  Website: www.ccals.org
  
  

• I AM ALS: A patient-led community that provides support and resources.
  Website: www.iamals.org
  
  

• ALS Care Connection: A private online calendar that helps families organize volunteers to assist with caregiving tasks.
  Website: www.alsa.org/als-care/resources/als-care-connection

Living with ALS

Living with ALS can be challenging, but there are ways to cope with the disease and maintain a good quality of life. One inspiring example is Sandra, an artist and performer who adapted her creative pursuits after being diagnosed with ALS [18]. Her story reminds us that ALS doesn't have to define who we are, and we can find ways to continue pursuing our passions.

Here are some tips for living with ALS:

• Stay informed: Learn as much as you can about ALS and the resources available to you.
  
  

• Connect with others: Join a support group or connect with other people with ALS online [19]. Sharing your experiences and feelings with others can be incredibly helpful.
  
  

• Maintain a positive attitude: Focus on the things you can still do and enjoy.

Conclusion

ALS is a complex and challenging disease, but it's important to remember that you are not alone. With the right support and resources, you can live a fulfilling life with ALS. Stay informed, connect with others, and maintain a positive attitude. There is hope for the future, and researchers are working tirelessly to find new treatments and a cure. Remember that ALS doesn't have to define who you are. Like Sandra, the artist who continued to pursue her passion after her diagnosis, you can find ways to adapt and live a meaningful life [18]. Lean on your support system, engage in activities that bring you joy, and stay hopeful. The journey with ALS may be challenging, but it is also an opportunity for growth, resilience, and connection.

Works cited

1. Amyotrophic Lateral Sclerosis (ALS) | Johns Hopkins Medicine https://www.hopkinsmedicine.org/health/conditions-and-diseases/amyotrophic-lateral-sclerosis-als

2. Motor Neurone - Physiopedia https://www.physio-pedia.com/Motor_Neurone

3. Amyotrophic Lateral Sclerosis (ALS) - Diseases - Muscular Dystrophy Association, https://www.mda.org/disease/amyotrophic-lateral-sclerosis

4. ALS (Amyotrophic Lateral Sclerosis): What It Is & Symptoms - Cleveland Clinic, https://my.clevelandclinic.org/health/diseases/16729-amyotrophic-lateral-sclerosis-als

5. Amyotrophic lateral sclerosis (ALS) Information | Mount Sinai - New York, https://www.mountsinai.org/health-library/diseases-conditions/amyotrophic-lateral-sclerosis-als

6. Muscular Dystrophy Association - What is amyotrophic lateral sclerosis (ALS)? https://www.mda.org/disease/amyotrophic-lateral-sclerosis#what-is-als 

7. ALS Life Expectancy: Prognosis and Treatment Options - Verywell Health https://www.verywellhealth.com/als-lou-gehrigs-disease-life-expectancy-2223973

8. Amyotrophic Lateral Sclerosis (ALS) | National Institute of Neurological Disorders and Stroke,  https://www.ninds.nih.gov/health-information/disorders/amyotrophic-lateral-sclerosis-als

9. Medications for Treating ALS | The ALS Association, https://www.als.org/navigating-als/living-with-als/medications

10. Treatment of ALS - Packard Center, https://packardcenter.org/about-als/treatment-of-als/

11. How is ALS Diagnosed and Treated? | ALS Program at HSS https://www.hss.edu/condition-list_amyotrophic-lateral-sclerosis.asp

12. Stages of ALS | The ALS Association https://www.als.org/understanding-als/stages

13. Amyotrophic lateral sclerosis (ALS) - Symptoms and causes - Mayo Clinic https://www.mayoclinic.org/diseases-conditions/amyotrophic-lateral-sclerosis/symptoms-causes/syc-20354022

14. Coping with ALS - MDA-ALS Center - University of Pittsburgh https://www.alsclinic.pitt.edu/patient-issues/coping-als

15. What Are Clinical Trials? - The ALS Association https://www.als.org/research/clinical-trials-for-patients

16. What's the Latest on ALS Research and Clinical Trials? - Mass General Brigham, https://www.massgeneralbrigham.org/en/about/newsroom/articles/whats-the-latest-on-als-research-and-clinical-trials

17. ALS Research Notification for Clinical Trials and Studies | National ALS Registry - CDC https://www.cdc.gov/als/abouttheregistrymain/active-alsclinicalresearchnotification.html

18. Sandra's Story: An Artist Living with ALS - YouTube, https://www.youtube.com/watch?v=CCTZISHa4oU

19. Online Groups -ALS Ride For Life https://alsrideforlife.org/programs-assistance/online-groups/