Amyotrophic Lateral Sclerosis (ALS) – Diagnosis and Treatment

Amyotrophic Lateral Sclerosis or ALS is also known as Lou Gehrig’s disease. It is a progressive neurodegenerative disorder that affects nerve cells in the brain and spinal cord. More than 5000 new cases of ALS are diagnosed every year in the United States. ALS symptoms affect people between the ages of 40 and 70. However, at times it can affect the younger population as well. The disease eventually leads to absolute loss of muscle control, making daily activities extremely difficult. 

Continue reading to understand more about ALS symptoms, its diagnosis and available treatment options. 

What are the symptoms of ALS?

Amyotrophic Lateral Sclerosis (ALS) symptoms gradually worsen as the disease progresses, affecting muscle control and mobility. Common symptoms include:

• Muscle weakness, especially in the arms and legs
• Emotional changes, including cognitive and behavioral alterations
• Difficulty speaking, changed voice or slurred speech
• Trouble swallowing or breathing
• Muscle cramps and twitching
• Stiffness or spasticity in muscles
• Difficulty walking or performing daily tasks
• Unintended weight loss due to muscle atrophy
• Loss of fine motor control, such as difficulty grasping objects

What causes ALS?

The exact cause of Amyotrophic Lateral Sclerosis (ALS) remains largely unknown. It is however believed to be influenced by a combination of genetic and environmental factors. In about 10% of cases, ALS is inherited. The remaining 90% of cases are random, with no clear genetic link. Some potential contributing factors include:

• Genetic mutations, associated with SOD1, C9orf72, TARDBP, and FUS.
• Environmental exposures to toxins or chemicals
• Oxidative stress and cellular damage
• Abnormal protein accumulation in nerve cells
• Autoimmune responses attacking nerve cells

Researchers continue to study these factors to better understand the underlying causes of ALS.

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What are the early signs of ALS in females and males?

The early signs of Amyotrophic Lateral Sclerosis (ALS) are generally similar in both females and males. ALS is a disease that affects nerve cells that control muscle movement. Symptoms can vary in their severity and progression. Early signs to look for in both genders include:

• Muscle weakness: Muscle weakness or atrophy in the arms, legs, hands, or feet, leading to difficulty in tasks like buttoning shirts or lifting objects. The patient suffers from stiffness and at times immobility.
• Difficulty walking: ALS at times presents with other symptoms including unsteadiness, tripping, or frequent falls. The problems with balance happens due to weakened leg muscles. 
• Muscle cramps and twitching: Muscle cramps and twitching mostly takes place in the arms, shoulders, and tongue. This again affects the patient in performing day to day responsibilities. 
• Slurred speech: Patients suffering from ALS suffer from speaking clearly. Slurry speech leads to difficulties in communication.
• Difficulty swallowing: Another eminent symptom of ALS is difficulty swallowing. Patients also suffer from choking or coughing while eating or drinking.
• Fatigue: ALS also presents with extreme fatigue and persistent tiredness due to weakened muscles and reduced mobility.

These signs often start subtly but worsens over time. It leads to more noticeable impairments in daily activities.

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How to Diagnose ALS?

Diagnosing Amyotrophic Lateral Sclerosis (ALS) is challenging. There is no single test to confirm it. Instead, doctors rely on a combination of clinical assessments and diagnostic tests to rule out other conditions. The diagnostic process typically involves:

1. Neurological Examination: A thorough evaluation of muscle strength, reflexes, coordination, and motor skills.
2. Electromyography (EMG): A test that measures electrical activity in muscles to detect nerve damage.
3. Nerve Conduction Study (NCS): Used to assess the speed and strength of nerve signals, helping differentiate ALS from other nerve disorders.
4. Magnetic Resonance Imaging (MRI): To rule out other conditions such as tumors, spinal cord issues, or brain abnormalities that could mimic ALS symptoms.
5. Blood and Urine Tests: To rule out metabolic disorders or infections that could cause similar symptoms.
6. Genetic Testing: In familial ALS cases, genetic testing can identify mutations linked to the disease.
7. Lumbar Puncture (Spinal Tap): In some cases, cerebrospinal fluid may be analyzed to rule out other neurological conditions. Cerebrospinal fluid is a clear fluid found around the tissues around the brain.

Management and Post Treatment Care for ALS

Managing Amyotrophic Lateral Sclerosis (ALS) focuses on improving quality of life. Unfortunately there is no cure for the disease. Post-treatment care involves a multidisciplinary approach to address symptoms. Patients need continuous help with mobility, and need emotional support. Key aspects of management and post-treatment care include:

Medical Management:

• Medications: Riluzole and edaravone may slow the progression of ALS. Additional medications can help manage symptoms such as muscle cramps, spasticity, and pain. Riluzole is a benzothiazole while edaravone is a pyrazolone. Both of these drugs act as a glutamatergic neurotransmission inhibitor.
• Breathing support: As ALS progresses, devices like non-invasive ventilation (BiPAP) or mechanical ventilators may be needed to assist with breathing.
• Feeding tube: In advanced stages, when swallowing becomes difficult, a feeding tube may be recommended to ensure proper nutrition.

Physical and Occupational Therapy:

• Physical therapy: Regular exercises help maintain muscle strength and flexibility, reducing pain and improving mobility.
• Occupational therapy: Assists patients in adapting to muscle weakness by providing assistive devices (e.g., walkers, wheelchairs, or special grips for utensils) to promote independence in daily tasks.

Speech and Nutritional Support:

• Speech therapy: Helps maintain communication abilities as ALS affects speech muscles. Patients may also learn alternative communication methods like speech-generating devices.
• Nutritional support: A dietitian can recommend high-calorie, easy-to-swallow foods to prevent weight loss and malnutrition.

Psychological and Emotional Support:

• Counseling and support groups: Patients and families benefit from emotional support. This includes therapy and ALS support groups, to cope with the challenges of the disease.
• Palliative care: Palliative care ensures dignity and comfort in the later stages of ALS. It greatly manages pain and discomfort. 

Ongoing Monitoring:

• Regular follow-ups with neurologists and a care team are essential to adjust treatment plans as the disease progresses. Follow ups ensure that emerging symptoms are managed effectively.

What is ALS Life Expectancy?

The life expectancy for individuals diagnosed with Amyotrophic Lateral Sclerosis (ALS) can vary. This significantly depends on several factors, including the age of onset, the progression rate of the disease, and overall health. On average, most people with ALS live 2 to 5 years after diagnosis. If managed on time, people with this condition can survive 10 years or more. 

These are the factors that affect the life expectancy of people with ALS

• Age at diagnosis: Younger individuals tend to have a slower progression of the disease. This often leads to a longer life expectancy.
• Site of onset: Bulbar onset (affecting speech and swallowing) is often associated with a shorter life expectancy compared to limb-onset ALS.
• Respiratory function: The deterioration of respiratory muscles significantly impacts survival. Respiratory failure is a common cause of death in ALS patients.
• Overall health: Coexisting health conditions and the effectiveness of management strategies can also play a role in extending life.

Take the First Step Towards Better ALS Management

ALS symptoms are extremely challenging. ALS or Amyotrophic Lateral Sclerosis is a degenerative neurological condition that requires prompt treatment. The exact causes of ALS still remains unknown. No cure exists and early detection is important for managing symptoms and improving quality of life. 

For proper diagnosis, healthcare professionals mostly rely on neurological examinations, electromyography, and imaging studies. There is ongoing research, which gives thousands of people the hope for a better life, post Amyotrophic Lateral Sclerosis. With the support of healthcare professionals and caregivers, patients can live a life without the complexities of this condition.