What Is ALS Disease in Humans

What is ALS? Its name is more commonly seen around nowadays. ALS, which stands for amyotrophic lateral sclerosis (and is sometimes called Lou Gehrig’s disease), is a degenerative disease of the nervous system. It affects the motor neurons in particular.

This disease can cause serious disability and in most cases it is terminal. Since there is no known cure, it is clear why it is a big subject of interest and research.

This article will discuss ALS and answer many questions, including what is ALS and what are the symptoms, its causes, and how it can be treated.

Overview of symptoms and progression

We’ve answered what is ALS disease, but what are the clinical features? This condition has a well-known set of symptoms that tend to be characteristic of certain points of the disease progression.

Early stage

Are you wondering, what is usually the first sign of ALS? Well, the first symptom tends to be muscle weakness. Patients may notice that they can’t move their limbs as easily as before.

Other early features seen include:

  • Fatigue;
  • Muscle cramps, twitching (fasciculations), and atrophy;
  • Impaired balance;
  • Slurred speech.

Middle stage

In the middle stage, the muscle involvement becomes wider and more severe, though some are still spared for the most part:

  1. Paralysis of some muscles.
  2. Difficulty swallowing, which affects eating and can result in drooling.
  3. Breathing may become more difficult, particularly when lying down.
  4. Contractures, where unused muscles become very stiff and painful.

Late stage

The late stage of Lou Gehrig’s disease is very disabling as most voluntary muscles are paralyzed by this point. This also includes respiratory muscles.

Stephen Hawking’s symptoms were characteristic of the late stage of ALS and he was a rare case of decade-long ALS survival.

At this point, almost all patients will need assistance in most aspects of daily living.


The last stage of ALS is typically characterized by respiratory failure. However, malnutrition, pneumonia, pulmonary embolism, and arrhythmias can also cause death. At this point, most patients will require constant medical care.

Types of ALS and their signs

What is ALS (Lou Gehrig’s disease) categorized into? Amyotrophic lateral sclerosis can be classified into two major types depending on the first signs seen.

  1. Limb-onset: In this type, the muscles in the upper and lower limbs are weakened first. Patients can find it hard to hold things and may also have trouble balancing when walking or standing.
  2. Bulbar-onset: Symptoms start around the head and neck, so there’s trouble speaking and swallowing as the first signs.

Differences between ALS and other motor neuron diseases

So, ALS is what type of disease? The answer is motor neuron disease (MND), but it is not the only one in this group, though it is the most common. Neurodegenerative disorders included in MND cause the degeneration of motor neurons in the nervous system, which affects muscle function.

However, the regions or functions they affect are different in these disorders: progressive bulbar palsy (PBP), for example, as a type of motor neuron disease is limited to muscles around the head and neck and progressive muscular atrophy where there is primarily voluntary muscle weakness and atrophy.

What is usually the first sign of ALS?

Muscle weakness is the first thing people with ALS will notice, especially in their arms and legs. However, in the bulbar-onset variant, the weakness starts with the muscles in the head and neck.

How to recognize the first signs of ALS

In the limb-onset type, patients may find it difficult to lift objects and do precision tasks like buttoning a shirt or writing. They may also stumble when walking or even trip occasionally.

Bulbar-onset ALS will usually show changes in speech and trouble swallowing food and saliva.

What is the cause of ALS?

If you want to know, what is the cause of ALS, it is not known. It is considered sporadic in most cases, as a result. In a few cases, there is a genetic component though.

Risk factors for ALS

There aren’t many strong links between lifestyle factors and this disease. Increased age and the male sex are established factors. Smoking has also been linked to an increased risk of ALS.

Genetics and environmental factors

Genetics and familial factors are strongly linked to this condition. About 10% of cases are classified as familial ALS. Research is constantly ongoing to learn more about the genetic component of this disease.

There are also suspected environmental links, such as occupations, electrical exposure, metals like lead, and pesticides. However, none of these are considered established links.

The role of oxidative stress and inflammation in ALS development

What is ALS and oxidative stress’s relationship in the condition’s development? Well, while the cause isn’t known, it has been shown that free oxygen radicals contribute to the condition. A mutation in an enzyme that helps reduce the levels of these radicals is mutated in many cases of the condition, buttressing this association.

Diagnosis and management of ALS

Understanding how amyotrophic lateral sclerosis is diagnosed and managed can give you a better idea of what you or a loved one might need to go through as a patient.

The diagnostic process for ALS

Diagnosing this condition relies mostly on a physical examination, particularly the neurologic aspect of it. However, medical history and some investigations may be needed to rule out other potential causes of symptoms.

If you’re wondering what age is ALS diagnosed, it is mostly in older age groups, between 40 and 70.

Current treatment options for ALS

What is the treatment for ALS? It is important to know that while there’s no cure for the condition, there are various treatments that aim to improve the quality of life and take care of symptoms.

Physical therapy is an important part of ALS treatment as it can help slow down muscle weakness and help patients maintain independence for longer.

Current treatment options include:

  • medication like riluzole and edaravone;
  • physical and speech therapy;
  • breathing support.

Stem cells for ALS

Stem cells are not an approved treatment, yet they have a lot of potential in promoting neuronal regeneration. While they cannot cure ALS as of yet, they have been shown to provide a safe alternative method of slowing the disease’s progression and improving the symptoms.

Multidisciplinary care for people with ALS

When it comes to the question what is ALS condition?, you know that it is one that involves the nervous, musculoskeletal, respiratory, digestive, and even cardiovascular systems. This emphasizes why you will need to treat Lou Gehrig’s disease in a multidisciplinary fashion with the involvement of medical specialists in various fields and the use of a variety of therapeutic methods for a better and sustainable effect. 

Research and future directions

Because it has no cure, is very disabling, and is almost always terminal, there’s a lot of research and effort put into treating ALS.

H3. Ongoing research studies and breakthroughs

Recently, Relyvrio™ was approved by the U.S. FDA for the treatment of ALS, as it was able to prolong survival and delay the progression of the condition.

Promising therapies and treatments on the horizon

Currently, the use of an immune-modulating therapy called COYA 302 is in the early research phase, with the suggestion that it can help slow ALS significantly.

The future of ALS research and potential approaches for a cure

In early 2023, blocking a certain protein – PIKFYVE kinase – was found to allow motor neurons to survive longer in ALS patients. It was found that every method of blocking this protein yielded similar results. This provides more insight into the condition and how it can be treated in the future.

Currently, stem cell therapy remains a promising option for ALS treatment due to being able to naturally stimulate neuronal regeneration. Therapy based on mesenchymal stem cells has already been applied in ALS patients with proven safety and slowing the progression of the disease.

Final thoughts and recommendations for living with ALS

We’ve answered the question: what is ALS (Lou Gehrig’s disease); you’ve learned that a diagnosis of amyotrophic lateral sclerosis can be very hard to deal with. The best outcomes can be achieved when the early signs are spotted on time and treatment is initiated. During the entire period of living with the disease, you will need medical attention to control your health condition.

Despite the disorder has no cure, there is a lot of promise on the horizon for this condition and many options, including stem cell therapy, which can improve the quality of life and survival when dealing with amyotrophic lateral sclerosis.

Get a free online consultation

You can contact a medical advisor of the clinic to learn about the expected results for your case of the disease, what the treatment may involve, and what its cost and duration are.

Dr. Aleksandra Fetyukhina
Dr. Aleksandra Fetyukhina, MD

Medical Advisor, Swiss Medica doctor

List of References

  1. Tefera, T. W., & Borges, K. (2017). Metabolic Dysfunctions in Amyotrophic Lateral Sclerosis Pathogenesis and Potential Metabolic Treatments. Frontiers in Neuroscience, 10.

  2. Armon C. (2009). Smoking may be considered an established risk factor for sporadic ALS. Neurology, 73(20), 1693–1698.

  3. Siddique, T., & Ajroud-Driss, S. (2011). Familial amyotrophic lateral sclerosis, a historical perspective. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 30(2), 117–120.

  4. Ingre, C., Roos, P. M., Piehl, F., Kamel, F., & Fang, F. (2015). Risk factors for amyotrophic lateral sclerosis. Clinical epidemiology, 7, 181–193.

  5. Hemerková, P., & Vališ, M. (2021). Role of Oxidative Stress in the Pathogenesis of Amyotrophic Lateral Sclerosis: Antioxidant Metalloenzymes and Therapeutic Strategies. Biomolecules, 11(3), 437.

  6. Bonosi, L., Silven, M. P., Biancardino, A. A., Sciortino, A., Giammalva, G. R., Scerrati, A., Sturiale, C. L., Albanese, A., Tumbiolo, S., Visocchi, M., Iacopino, D. G., & Maugeri, R. (2022). Stem Cell Strategies in Promoting Neuronal Regeneration after Spinal Cord Injury: A Systematic Review. International journal of molecular sciences, 23(21), 12996.

  7. Oh, K. W., Noh, M. Y., Kwon, M. S., Kim, H. Y., Oh, S. I., Park, J., Kim, H. J., Ki, C. S., & Kim, S. H. (2018). Repeated Intrathecal Mesenchymal Stem Cells for Amyotrophic Lateral Sclerosis. Annals of neurology, 84(3), 361–373.

  8. Aljabri, A., Halawani, A., Bin Lajdam, G., Labban, S., Alshehri, S., & Felemban, R. (2021). The Safety and Efficacy of Stem Cell Therapy as an Emerging Therapy for ALS: A Systematic Review of Controlled Clinical Trials. Frontiers in neurology, 12, 783122.

More sources

Medical Advisor, Swiss Medica doctor

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