Amyotrophic Lateral Sclerosis: The Disease That Redefines Life

Introduction

With every ALS diagnosis comes a story of courage, resilience, and unbreakable human efforts.  

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative condition that leads to loss of muscle control. It majorly affects the motor neurons and spinal cord, disrupting communication with muscles. Amyotrophic lateral sclerosis (ALS), or ‘Lou Gehrig’s disease, develops progressively; that is, the symptoms worsen with time.

Recognizing early signs and ALS progression is essential for timely diagnosis and effective treatment. 

Ask The Expert

What Causes ALS?

The exact cause of ALS is unknown. Scientists and clinicians have widely explored possible genetic and environmental factors leading to ALS.  Globally, every 1.7 to 2.2 out of every 100,000 individuals are diagnosed with ALS [1]. Although the cases are rare, the impact is harsh on affected individuals and family members.  

The muscle gets wasted (atrophy). This potentially makes breathing difficult and may result in a life-threatening condition.  

What are the Types of ALS? 

The major types of ALS include: 

• Sporadic ALS: Most common, makes 90% of cases, occurs randomly
• Familial ALS: Genetic cause, occurs due to an inherited gene from a parent
• Juvenile ALS: Onset appears before 25 years, more than 40% cases occur due to a genetic factor

What are the Causes of ALS?

The deterioration of motor neurons causes amyotrophic lateral sclerosis. There are two groups of motor neurons in the body. This includes:

• Upper Motor Neurons: A group of motor neurons that extends from the brain to the spinal cord
• Lower Motor Neurons: A group of motor neurons that extends from the spinal cord to muscle of the body

In ALS, overall nerve cells controlling the voluntary muscle functions are adversely affected. 

What are the Risk Factors of ALS?

The ALS risk factors involve:

• Genetic Factor: A gene carrying an ALS mutation passed down from a parent. The children having parents with ALS faulty genes are at 50% more risk. Some common faculty gene examples: C9orf72, SOD1, TARDBP and FUS genes
• Age: The risk of ALS is most common between 55 and 75 years
• Sex: Before 65 years, men are at a higher risk
• Environmental Factors: Substance use, smoking, exposure to toxins, traumatic injuries, viral infection, etc.

What are the Common Symptoms of ALS? 

Amyotrophic lateral sclerosis symptoms begin with slurred speech, twitching or trouble swallowing.

The disease progression shows other signs and symptoms, including: 

• Muscle weakness, twitching, and cramping, especially in the hands and feet
• Slurred speech and difficulty in swallowing or drooling
• Tripping or Falling
• Respiratory problems
• Fatigue
• Cognitive and emotional changes

How is ALS Diagnosed?

ALS is diagnosed with a series of pathological tests and imaging techniques, such as:

• Clinical examination (Physical)
• Pathological test (Blood and Urine)
• Electrodiagnostic test (Electromyography, Nerve conduction study)
• Imaging Test (MRI scan)
• Muscle or nerve biopsy or Lumbar puncture

What are the Current Treatments for ALS?

Amyotrophic Lateral Sclerosis Treatment focuses on managing symptoms and providing supportive care. This includes:

• Palliative Care: FDA-approved medications include riluzole, sodium phenylbutyrate, edavarone, etc. Medication involves short-term survival and slows down physical decline in ALS patients.
• Physical Therapy: Exercise strengthens muscles and supports overall well-being
• Occupational Therapy: Strengthens daily life tasks, use of assistive devices like braces, wheelchairs
• Speech Therapy: Supports communication and enables safe swallowing, conserves energy by promoting non-verbal actions
• Dietary/Nutritional Support: Nutritional counseling recommends balanced diets that are easy to consume. If a required supportive device (feeding tube) is recommended  
• Breathing Support: Noninvasive ventilation (NIV) recommended, device mask over nose and mouth, makes breathing comfortable 

All the above therapies help with ALS management and do not target the root cause of the problem.

What are the Emerging Research and Therapies in ALS Treatment? 

Stem cell research, especially the use of mesenchymal stem cells (MSCs) in ALS have shown promising outcomes. MSCs can differentiate into various cell types and release growth factors. Clinical trials revealed the potential of MSCs in delaying disease onset and progression. Stem cells regenerate and repair damaged neurons in the brain. They potentially address the problems from roots. 

How do Stem Cells Help in ALS?

Stem cells in ALS work through multiple mechanisms. The cells invade complex cellular and molecular pathways and modify them. These include:

• Replacement of Damaged/Dead Tissue: MSCs release various cell growth signals, promote differentiation into new cells
• Promote Cell Regeneration: Releases messenger cells, promotes cell-to-cell communication, promotes cellular repair and regeneration.
• Anti-Inflammation: MSCs release anti-inflammatory (TNF-α and IFN-γ) molecules, reducing inflammation
• Release Neurotrophic Factors: MSCs release neurotrophic factors, support differentiation into astrocytes and microglia, creates neuroprotective milieu, prevention motor neuron degeneration [2]
• Immunomodulation: MSCs suppress T cell proliferation and promote B cell activation, limit neuronal inflammation and modulate immune rejection
• Improve Energy: MSCs potentially introduce a large influx of mitochondria, increasing energy levels in the body.

Stem cells in ALS repair and replace damaged neurons, prevent further neuron loss, and support the existing motor neural cells.

What do Preclinical and Clinical Trials tell us about Stem Cell Therapy for ALS?

Preclinical and clinical trials have shown promising outcomes. Some studies include:

• A preclinical or in vivo study showed a positive outcome in introducing MSCs
• MSCs showed improved muscle strength and muscular function in an ALS patient, with no adverse effect.
• MSCs differentiate into neural stem cells (neurons and glial cells), and patients showed well-tolerance and improved ALS patient survival. 
• Stem cell treatment with conventional ALS therapy showed a significant improved outcome [3]
• A large-scale clinical trial for determining long-term safety is expected.

What Must You Know About Stem Cell Therapy for ALS?

• Stem cells must be procured from an authentic source.
• Stem cell therapy is a complex process that must be performed by experienced professionals/clinicians.
• Treatment shows variable results among individuals. 
• Stem cells for research and therapy must be of superior quality to gain optimal results.
• Patient or family member must consult an experienced clinician and discuss detail account of the treatment option, and the possible outcome

*Advancells India is among the leading research laboratories that conducts research on Stem Cell culture and maintains clinical-grade stem cells.  

Key Points to Know About ALS

• ALS is a fatal motor neuron disease that affects arms and legs function
• ALS targets voluntary controls, such as arm and leg function
• ALS does not affect an individual’s intelligence
• The real cause of ALS is unknown
• Current treatment for ALS focuses on symptom management and reducing further decline.

Conclusion 

ALS adversely affects the quality of life of patients and their family members/caregivers. Early symptom recognition is key to effective management of ALS. There are various conventional and advanced treatment options available for ALS. Consult an experienced clinician and make evidence-based choices. Discuss clearly your expectations and treatment outcome during your clinic visit.

Amyotrophic Lateral Sclerosis (ALS) Patient Success Stories

References

1. Target ALS. ALS disease statistics: insights from the latest research. New York, NY: Target ALS; 30 Jan 2025. Available from: https://targetals.org/news/als-statistics
2. Sun H, Bénardais K, Stanslowsky N, Thau-Habermann N, Hensel N, Huang D, Claus P, Dengler R, Stangel M, Petri S. Therapeutic potential of mesenchymal stromal cells and MSC conditioned medium in amyotrophic lateral sclerosis (ALS)-in vitro evidence from primary motor neuron cultures, NSC-34 cells, astrocytes and microglia. PloS one. 2013 Sep 12;8(9):e72926.
3. Sykova E, Cizkova D, Kubinova S. Mesenchymal stem cells in treatment of spinal cord injury and amyotrophic lateral sclerosis. Frontiers in cell and developmental biology. 2021 Jul 6;9:695900.

FAQ’s

Q- Is Amyotrophic Lateral Sclerosis ALS Curable?

No, the complete cure of ALS is unknown. The current treatment regimen focuses on managing symptoms and preventing further neural degeneration.

Q- How Long Do ALS Patients Live?

The majority of ALS patients live upto 3 years after diagnosis. However, with early diagnosis and advanced treatment, life expectancies can increase by more than 20 years.

Q- What are Amyotrophic Lateral Sclerosis Causes?

Degeneration of motor neurons causes ALS. This results in twitching, dropping, tripping, fatigue, falling, etc.

Q- Can ALS be Slowed Down?

Yes, with appropriate treatment, ALS progression gets significantly slowed down.

Q- Is Stem Cell Therapy for ALS Safe?

Yes, preclinical and clinical research have shown the safety of stem cell therapy (MSCs) for ALS patients. Currently, large-scale clinical trials to determine the long-term safety of stem cells are desirable.