Weeks 5 and 6: Early signs

early signs 5,6

The early signs of ALS are often subtle, and are easily mistaken for other less severe conditions, making early diagnosis challenging. These initial symptoms typically begin gradually and vary significantly between individual cases; understanding these signs is crucial for early intervention and management. It is difficult to identify that signs and symptoms can be attributed specifically to ALS, which is why general education of the public is essential for early intervention and potential lengthening of life expectancy of cases.

Muscle Twitches (Fasciculations)

• One of the earliest and most common symptoms of ALS is muscle twitching, also known as fasciculations. These involuntary movements are often described as “small ripples” under the skin, occurring in the arms, legs, shoulders, and even the tongue. While muscle twitches can occur in healthy individuals due to stress or fatigue, persistent fasciculations can be an indicator of an underlying health issues, including ALS as the potential culprit.

Muscle Weakness

• Muscle weakness is equally a hallmark of early ALS. It may begin in one limb–difficulty lifting objects with one arm, or stumbling due to weakness in a leg are potential indicators of ALS. This weakness is typically asymmetrical, meaning it affects one side of the body disproportionately compared to the other. Tasks requiring fine motor skills, such as buttoning a shirt, using a pen, or typing, can become increasingly difficult for ALS patients.

Muscle Cramps

• Muscle cramps or spasms may occur early on, causing pain and discomfort. These cramps are most noticeable in the hands or feet, and may be accompanied by stiffness or tightness in the affected muscles.

Stiff and Tight Muscles (Spasticity)

• Spasticity, or abnormal muscle tightness caused by prolonged muscle contraction, can cause stiffness, which restricts movement. This symptom often starts in the legs, causing a feeling of tightness when walking or moving, leading to difficulties with coordination.

Speech Changes

• Although less common in the early stages, some individuals may notice slurred speech (dysarthria). This most often begin subtly, with occasional difficulty articulating words or slower speech patterns.

Unexplained Fatigue

• Fatigue that is disproportionate to activity levels is another early sign of ALS. Weak muscles may require extra effort to perform simple tasks, leading to a constant feeling of exhaustion.

Clumsiness

• Early ALS may manifest as general clumsiness, such as dropping items, tripping over objects, or an inability to maintain balance. These occurrences might initially seem random but tend to increase over time.

Progression and Awareness

• The early signs of ALS tend to progress and become more pronounced over weeks or months. The asymmetrical onset is a distinguishing feature, as symptoms often begin on one side of the body before spreading. 

Early recognition of these signs allows for prompt evaluation and tailored care, potentially improving the quality of life for individuals living with ALS. 

progressive symptoms 5-7

As ALS progresses, the symptoms become more widespread and debilitating, impacting nearly every aspect of an individual’s physical capabilities. This progression varies from person to person, but the overall trajectory involves a steady decline in muscle function and motor control.

Speech and Swallowing Difficulties (Dysarthria and Dysphagia)

• One of the progressive symptoms of ALS is difficulty speaking (dysarthria) and swallowing (dysphagia). Speech may become slurred, slow, or difficult to understand. Over time, swallowing difficulties can lead to challenges in consuming food and liquids, increasing the risk of malnutrition and aspiration pneumonia.

Increased Muscle Weakness and Atrophy

• Muscle weakness, which may initially affect only one limb, becomes more pronounced and spreads to other parts of the body. Tasks that were once simple, such as walking, holding objects, or sitting up, become increasingly challenging. Muscle atrophy (shrinking of muscles due to disuse) accompanies this weakness, visibly reducing muscle mass.

Breathing Difficulties

• As the muscles responsible for breathing weaken, individuals may experience shortness of breath and a reduced ability to clear their airways effectively. This can lead to respiratory infections and a reliance on ventilatory support, such as non-invasive ventilation or, in advanced stages, a mechanical ventilator.

Loss of Mobility

• Progressive muscle weakness can result in a complete loss of mobility. Many individuals become wheelchair-dependent as their legs lose strength. Later, even the arms and hands may lose functionality, making daily activities such as eating, dressing, and writing impossible without assistance.

Emotional and Cognitive Changes

• Though primarily a motor neuron disease, ALS can occasionally impact cognitive function, resulting in symptoms like emotional lability or difficulty concentrating. A subset of individuals develops frontotemporal dementia (FTD), which affects personality and decision-making abilities.

In the advanced stages of ALS, the combination of these progressive symptoms significantly impacts quality of life. Supportive care, assistive devices, and a multidisciplinary healthcare team are essential for managing these challenges and ensuring comfort.

stages and prognosis 6,7

ALS is a progressive disease, and almost always worsens quickly after disease development. Severe symptoms often appear quickly, though the order of appearance is not the same across all cases.

• For example, ALS can be described as either bulbar or spinal, which contrast in the area in which symptoms begin. For bulbar ALS, symptoms begin involving the face, mouth and throat, whereas spinal ALS symptoms first involve the arms, legs, and trunk (torso). 

• However, these designations only involve the first symptoms developed; once ALS progresses, it involves both bulbar and spinal regions. 

ALS progression involves two major staging systems: the King's staging system and the Milano-Torino stagins (MiToS) system. Each has progressive stages that end in stage 5, death. 

1. King's Staging System 7

• Five stages that describe the physical effects of ALS. Counts the regions of the central nervous system (CNS) affected, atrophy (loss or shrinkage of neural cells), spasticity (abnormal increase in muscle stiffness), dysphagia, or dysarthria. 

• Stage 1: one CNS area involved

• Stage 2: two CNS areas involved

• Stage 3: three CNS areas involved

• Stage 4: nutritional or respiratory failure that requires a feeding tube or artificial respiration 

• Stage 5: death 

2. Milano-Torino Staging System 8

• This staging system begins at stage zero to stage 5. The MiToS system uses the ALS Functional Rating Scale, which defines four components of possible loss of function in ALS: fine motor control, leg motor control, speaking and swallowing, and breathing. 

• Stage 0: No functional impairment

• Stage 1: Loss of one type of function

• Stage 2: Loss of two types of function

• Stage 3: Loss of three types of function

• Stage 4: Loss of four types of function

• Stage 5: death 

Prognosis of ALS (Amyotrophic Lateral Sclerosis) 9

It is difficult to make a general statement about the prognosis of ALS because there is a great degree of heterogeneity between cases. However, overall prognosis of ALS is generally poor due to its progressive and incurable nature. ALS causes the degeneration of motor neurons, leading to increasing muscle weakness and loss of voluntary movement. Over time, the disease affects the ability to breathe, eat, and communicate, significantly impacting quality of life. 

Life Expectancy 9
The average life expectancy after an ALS diagnosis is approximately 2 to 5 years, though this can vary. According to the ALS Association, about 20% of individuals live beyond 5 years, and 10% may survive for 10 or more years. 9 Rarely, some individuals live much longer, such as Stephen Hawking, who lived with ALS for over five decades. Overall, it is very unlikely that a patient with ALS will survive for more than 20 years with the disease. 

Factors Affecting Prognosis 9 

1. Age of Onset: Younger individuals often experience slower disease progression compared to those diagnosed later in life.

2. Respiratory Function: Declining respiratory muscle strength is a critical factor influencing survival. Access to ventilatory support can extend life expectancy.

3. Access to Care: Multidisciplinary care, including physical therapy, speech therapy, and nutritional support, has been shown to improve quality of life and potentially extend survival. Treatment is based on symptoms, not the designated stage. 

Quality of Life
While ALS is ultimately fatal, treatments and interventions can enhance comfort and well-being. Medications may slow disease progression, and non-invasive ventilation and feeding tubes can address respiratory and nutritional challenges. Emotional support from caregivers, therapists, and support groups plays a crucial role in maintaining a positive outlook.

Test your knowledge

Google Form Link

1. Which of the following is considered one of the earliest and most common symptoms of ALS?
   A. Loss of vision
   B. Muscle twitching (fasciculations)
   C. Severe cognitive decline
   D. High fever

2. What is a distinguishing feature of early ALS muscle weakness?
   A. It always starts in both legs equally.
   B. It is symmetrical across the whole body.
   C. It often begins asymmetrically, affecting one side more than the other.
   D. It only affects the face and neck.

3. Which symptom is more likely to appear as ALS progresses rather than in its early stages?
   A. Muscle cramps
   B. Clumsiness
   C. Breathing difficulties
   D. Muscle twitches

4. Which of the following describes bulbar ALS?
   A. Symptoms begin in the arms and legs.
   B. Symptoms begin in the face, mouth, and throat.
   C. Symptoms begin in the spinal cord only.
   D. It does not affect speech or swallowing.

5. In the King's Staging System for ALS, what is indicated by Stage 4?
   A. Death
   B. Two CNS regions involved
   C. Nutritional or respiratory failure requiring intervention
   D. Loss of one type of function

6. According to the Milano-Torino Staging System (MiToS), what stage corresponds to the loss of three types of function?
   A. Stage 0
   B. Stage 2
   C. Stage 3
   D. Stage 5

7. Which factor is most likely associated with a slower progression of ALS?
   A. Older age at onset
   B. Early decline in respiratory function
   C. Younger age at diagnosis
   D. Lack of multidisciplinary care

8. What is the average life expectancy after an ALS diagnosis?
   A. 6 months to 1 year
   B. 1 to 2 years
   C. 2 to 5 years
   D. 10 to 15 years

9. Which of the following is NOT typically part of supportive care for ALS?
   A. Physical therapy
   B. Ventilatory support
   C. Chemotherapy
   D. Nutritional support

10. Why is public education about the early signs of ALS important?
    A. It prevents ALS from developing.
    B. It ensures patients never experience symptoms.
    C. It aids early intervention and may help extend life expectancy.
    D. It replaces the need for neurologist consultations.

Answer Key

1. B. Muscle twitching (fasciculations)

2. C. It often begins asymmetrically, affecting one side more than the other.

3. C. Breathing difficulties

4. B. Symptoms begin in the face, mouth, and throat.

5. C. Nutritional or respiratory failure requiring intervention

6. C. Stage 3

7. C. Younger age at diagnosis

8. C. 2 to 5 years

9. C. Chemotherapy

10. C. It aids early intervention and may help extend life expectancy