What Are Usually the First Signs of ALS? Early Symptoms

Amyotrophic lateral sclerosis (ALS) is a progressive neurological disease that is caused by the gradual deterioration and death of motor neurons. Motor neurons are nerve cells extending from the brain to the spinal cord and muscles throughout the body.

When motor neurons degenerate, they stop sending messages to the muscles and cause them to gradually weaken, leading to fasciculations (twitching) and atrophy (wasting away of muscles). Eventually, the brain loses the ability to initiate and control voluntary movements and a decline in the ability to talk, write, swallow, and breathe. 

In most cases, ALS affects both upper and lower motor neurons:

• Upper motor neurons: Present in the brain and spinal cord and are responsible for sending signals to the lower motor neurons
• Lower motor neurons: Present in the brain stem (lower part of the brain) and spinal cord and are responsible for receiving instructions from the upper motor neurons and forwarding them to the muscles

A person may experience different symptoms depending on whether upper or lower motor neurons are affected. Upper motor neuron affection usually causes muscle stiffening, whereas lower motor neuron affection causes loss of muscle tone.

• Classical amyotrophic lateral sclerosis (ALS): 
  • Most common type that affects more than two-thirds of people with ALS
  • Both the upper and lower motor neurons decline
• Progressive bulbar palsy: 
  • Affects about 25% of people with ALS.
  • Starts with difficulty speaking, chewing, and swallowing caused by a breakdown of the upper and lower motor neurons in the mouth and throat.
• Progressive muscular atrophy: 
  • Affects only the lower motor neurons
• Primary lateral sclerosis:
  • The rarest type of ALS
  • Only the upper motor neurons decline

The exact cause of amyotrophic lateral sclerosis (ALS) is unknown; however, scientific evidence suggests that both genetics and environment play a role in motor neuron degeneration and ALS development:

• Genetics: The National Institute of Neurological Disorders and Stroke discovered that mutations in the SOD1 gene were associated with cases of familial ALS. 
• Environmental factors: Studies have shown that environmental factors have an effect on the development or progression of the disease. These factors include exposure to toxic or infectious agents, viruses, physical trauma, diet, behavior, and occupational factors.

ALS is divided into two categories: 

• Sporadic ALS: About 90%-95% of ALS cases are sporadic, which is not tied to any clear risk factor or family history of the disease.
• Familial (genetic) ALS: About 5%-10% of all ALS cases are familial, which means that an individual inherits the disease from a parent due to genetic mutations.

Amyotrophic lateral sclerosis (ALS) affects people of all ethnicities. Risk factors for ALS include:

• Age: Although the disease can occur at any age, symptoms most commonly develop between the ages of 55 and 75 years.
• Gender: Men are slightly more likely to develop ALS than women. 
• Ethnicity: Caucasians and non-Hispanics are most likely to develop the disease.

Some studies report that military veterans are about 1.5 to 2 times more likely to develop ALS because they are exposed to lead, pesticides, and other environmental toxins during their service.

The onset of amyotrophic lateral sclerosis (ALS) is subtle and the symptoms are often overlooked. Gradually, these symptoms develop into obvious weakness or atrophy.

Early symptoms include:

• Muscle weakness or stiffness that affects the arm, leg, neck, or diaphragm
• Muscle twitches in the arm, leg, shoulder, or tongue
• Muscle cramps
• Spasticity (tight and stiff muscles)
• Slurred and nasal speech
• Difficulty chewing or swallowing
• Fatigue
• Gradual loss of strength and ability to speak, eat, move, and even breathe

The disease progresses over 3-5 years. As the disease progresses, muscle weakness and atrophy spread to other parts of the body, leading to:

• Difficulty moving
• Dysphagia (difficulty swallowing)
• Dysarthria (difficulty speaking or forming words)
• Dyspnea (difficulty breathing)

Because individuals with ALS have difficulty swallowing and chewing food and a faster calorie-burning rate, they tend to lose weight rapidly and become malnourished. People with ALS eventually may lose the ability to breathe on their own and must depend on a ventilator. 

Pulmonary problems with ALS include:

• Shortness of breath, even at rest
• Weak cough
• Difficulty clearing throat and lungs
• Increased salivation
• Inability to lie flat in bed
• Repeated chest infections and pneumonia
• Respiratory failure

Some individuals with ALS may develop painful neuropathy (nerve disease or damage) or dementia over time. Most people with ALS die from respiratory failure.

There is no single test that provides a definitive diagnosis of amyotrophic lateral sclerosis (ALS). Diagnosis is primarily based on a detailed history of the symptoms observed by a physician during physical examination, a review of a complete medical history, and a series of tests to rule out other diseases.

In addition to blood and urine tests, the following tests may be ordered:

• Neurologic examination: Tests for reflexes and analyzes symptoms such as muscle weakness, muscle wasting, and spasticity
• Electromyography: Assesses the electrical activity of muscle fibers and nerves
• Nerve conduction study: Measures the nerve’s ability to send signals to the muscle
• Magnetic resonance imaging: Uses a magnetic field and radio waves to produce detailed images of the brain and spinal cord
• Muscle biopsy: Analyzes tissue samples of the muscles or nerves 
• Spinal fluid test: Analyzes spinal fluid to help diagnose brain and spinal cord problems

Currently, there is no cure for amyotrophic lateral sclerosis (ALS) and no effective treatment to stop or reverse the progression of the disease. Treatments may include:

• Medications: FDA-approved drugs to treat ALS include Rilutek (riluzole) and Radicava (edaravone); may also include medications to help manage symptoms of muscle cramps, stiffness, excess, saliva, and phlegm
• Physical and occupational therapy: To ease discomfort from stiff muscles, cramps, and fluid retention
• Nutritional support: To ensure a healthy, balanced diet
• Speech therapy: Communication training to help maintain verbal communication 
• Assistive devices: Splints, braces, bars, and devices to help stay the person independent
• Special equipment: Wheelchairs and electric beds to help the person function independently