Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis (ALS): What to be Expected?

Looking at the name of this disease, it is a mouthful, no? Well, if you have no idea what this would be related to, read further as this disease can be considered quite common.

It was once commonly known as Lou Gehrig’s disease, following the retirement of the famous ballplayer in the 1940s due to the disease.

In Singapore, an estimated 300 to 400 people suffer from ALS. 

What is Amyotrophic Lateral Sclerosis (ALS)?

ALS, or amyotrophic lateral sclerosis, is a progressive neurodegenerative disease, or also known as a rare neurological disease. It belongs to a wider group of disorders known as motor neuron diseases, which are caused by gradual deterioration (degeneration) and death of motor neurons. Eventually, the brain loses its ability to initiate and control voluntary movements.

ALS primarily affects the nerve cells (neurons) in the brain and the spinal cord that are responsible for controlling voluntary muscle movement.

So, voluntary muscles are the muscles we choose to move, which usually includes movements like chewing, walking, and talking. The disease is progressive, meaning the symptoms get worse over time. 

Individuals with ALS will slowly lose their strength and the ability to speak, eat, move, and even breathe. Most people with ALS die from respiratory failure, usually within 3 to 5 years from when the symptoms first appear. 

Currently, there is no cure for this fatal disease and no effective treatment to halt or reverse the progression of the disease. Nevertheless, about 10% of people with ALS survive for 10 or more years and with a median survival of 3 years, treatment can extend the length and meaningful quality of life for patients.

Symptoms of Amyotrophic lateral sclerosis (ALS)

Amyotrophic lateral sclerosis (ALS) can be differentiated from stroke or trauma due to the subacute or chronic progression of symptoms.

Some early symptoms of ALS usually include muscle weakness or stiffness. They might seem subtle, but if overlooked, these weakness and stiffness will gradually affect all voluntary muscles and develop into more obvious weakness or atrophy. 

Symptoms include:

  • Difficulty in chewing or swallowing; tend to lose weight rapidly and can become malnourished
  • Impairment in the use of arms and legs
  • Muscle cramps
  • Muscle twitches in arms, legs, shoulders, or tongue
  • Muscle weakness affecting an arm, a leg, the neck, or diaphragm
  • Slow or slurred speech, difficulty in projecting voice
  • Tight and stiff muscles (spasticity)

The first sign of ALS usually appears in the hand or arm and can cause difficulty in simple tasks such as buttoning a shirt, turning a key in the lock or writing. In other cases, symptoms initially will affect a leg. People will experience awkwardness when walking or running, or they might trip or stumble more often. 

When symptoms begin in the arms or legs, it is called “limb onset” ALS;

If it presents as speech or swallowing problems, it is called “bulbar onset” ALS.

Besides muscle cramps that may cause discomfort, some individuals with ALS may develop painful neuropathy (nerve disease or damage).

Individuals with ALS eventually lose the ability to breathe on their own and must depend on a ventilator. Affected individuals also face an increased risk of pneumonia during later stages of the disease. Progressive symptoms will include:

  • Problems with moving, swallowing, speaking/ forming words, breathing (sequence will vary with different individuals)
  • Advanced stages: Shortness of breath and difficulty in breathing and swallowing – eventually leading to death

People with ALS are able to perform higher mental processes such as problem-solving, reasoning, remembering, and understanding. Therefore, they are very aware of their progressive loss of function and may become anxious and depressed. 

A small percentage of individuals may experience problems with language or decision-making, and there is growing evidence that some may even develop a form of dementia over time.

Risk Factors of Amyotrophic lateral sclerosis (ALS)

ALS is a common neuromuscular disease that affects people of all races and ethnic backgrounds, worldwide.

  • Age: Although the disease can strike at any age, symptoms most commonly develop amongst people aged between 55 to 75. It is also commonly believed to affect older people, but young people in their 20s can also get it,
  • Gender: Men are slightly more likely to develop ALS compared to women. However, in terms of age, the difference between men and women disappears.

Types of Amyotrophic lateral sclerosis (ALS)

ALS can be classified into two different categories:

  1. Sporadic ALS

Nearly all cases of ALS are considered sporadic, which means the disease seems to occur randomly to some individuals that have no clear associated risk factors and no family history of the disease. 

Although family members of people with sporadic ALS are mostly at an increased risk for the disease, the overall risk is very low and most will not develop ALS.

  1. Familial (Genetic) ALS

About 5% to 10% of all ALS cases are based on familial/ genetics, which means that an individual inherits the disease from a parent or within the family. 

The familial form of ALS usually only requires one parent to carry the disease-causing gene. Mutations in more than a dozen genes have been found to cause familial ALS.

Causes of Amyotrophic lateral sclerosis (ALS)

Exact causes of the ALS disease are not known, and it has not been identified the reason why it only strikes some individuals. However, there is evidence that both genetics and environmental factors play some role in motor neuron degeneration and the development of ALS.

The reasoning for genetics revolves around associated gene mutations that may lead to ALS-related motor neuron degeneration. It is also likely that specific gene mutations and/ or heredity modifies the disease and the likelihood of developing it.

As for environmental factors, it revolves more on the following:

  • exposure to toxic or infectious agents, 
  • physical trauma, 
  • diet, 
  • viruses, 
  • other behavioural and occupational factors that may be responsible for the disease:
  • Accumulation of protein aggregates (clumps)
  • Autoimmune and inflammatory mechanisms
  • Cytoskeletal protein defects
  • Defective glutamate metabolism
  • Free radical injury
  • Gene defects
  • Mitochondrial dysfunction
  • Programmed cell death or apoptosis
  • Viral infections

Treatment for ALS

Currently, there is no known possible cure or treatment that halts or reverses the progression of ALS. However, there are some medications that are prescribed to modestly slow the progression of ALS. 

While the search for an effective treatment and cure continues, global multidisciplinary teams are assisting ASL patients and their families to adjust to the many challenges of living with the disease. 

Specialists and healthcare professionals use various devices and therapies to help patients manage their ALS symptoms, while allowing those with the disease to maintain their independence as well as their quality of life. The approach has also been shown to prolong survival of people who have ALS. 

Various treatments and interventions may include:

  • braces and splints for arms and legs 
  • breathing-support devices
  • customised wheelchairs
  • diaphragm pacers
  • easier-to-swallow foods and liquids
  • exercise regimens – physical and occupational therapy
  • feeding tubes
  • home assessments to assist movement around the house
  • proper body positioning
  • support from a nutritionist
  • technological devices to assist communications
  • walking support devices

Always Make Those with ALS More Comfortable

Patients with ALS will have a mental and emotional impact to those around them, especially loved ones and family members due to their health deterioration. Nevertheless, with quick action, it could at least make the patient feel much more comfortable than they already are, while taking their minds off the depreciating conditions.

Always pay attention to the early symptoms and check with a healthcare professional on your health updates for early preparation. 

Neurologists and Physiotherapists at WhatsDoc are available for your constant enquiries, for you to have a peace of mind.