ALS (the disease): what it is, symptoms and treatment of Amyotrophic Lateral Sclerosis
When Stephen Hawking was diagnosed with amyotrophic lateral sclerosis (ALS), he was told he had only a few years to live. He lived more than 50. ALS, also known as motor neurone disease, is a rare degenerative disease that affects the muscles and gradually takes away the ability to walk, speak, swallow or breathe. Join us to learn a little more about this condition.
Key points of the article
- ALS (or ELA, its Portuguese acronym) is a rare and progressive degenerative neurological disease that affects the muscles and impairs functions such as walking, speaking or breathing
- Symptoms appear gradually and vary, but include muscle weakness, difficulty speaking and swallowing, among others
- There is still no cure, but there are treatments that help slow its progression and improve quality of life
- The diagnosis is clinical and requires other diseases to be ruled out, which usually makes it a lengthy process
- Family support and care from multidisciplinary teams are essential throughout the whole process
- Scientific research has made promising advances, such as new genetic and immunological therapies and communication-support technologies.
What is ALS?
It is a degenerative neurological disease that affects the motor neurones, which are the nerve cells responsible for sending messages from the brain and spinal cord to the muscles. When these neurones stop working, the muscles lose the ability to contract properly and begin to weaken.
Over time, functions as simple as walking, speaking, swallowing or breathing become increasingly difficult. That is why ALS is considered a progressive degenerative disease; it worsens over time and increasingly affects a person’s independence.
The difference between ALS and ELA
ALS and ELA are, in practice, the same thing. The acronym ALS (from the English Amyotrophic Lateral Sclerosis) is more widely used internationally. In Portugal, the most common term is ELA – Esclerose Lateral Amiotrófica. Both refer to the same neurological condition.
Causes of ALS
The truth is that it is still not known for certain what causes ALS. In most cases, the disease appears without warning and with no family history. Only around 5 to 10% of cases have a genetic origin.
Possible links with environmental factors such as exposure to toxins, smoking or even military service are being studied, but so far there is no clear explanation or identifiable cause in most cases.
We know that it is more common in men, generally from the age of 60 onwards, and that its progression varies a great deal from person to person. It is also estimated to have a prevalence of three to five cases per 100,000 people.
What are the first symptoms of ALS?
The symptoms of ALS can begin subtly, but gain strength over time. The first signs usually appear in the hands, legs or speech. Although most people retain their mental faculties intact, some patients also develop associated forms of dementia.
Some of the most frequent symptoms:
- Muscle weakness in the legs or arms
- Difficulty walking, holding objects or writing
- Muscle atrophy (muscles that shrink in size)
- Frequent spasms and cramps
- Slurred speech or difficulty articulating words
- Difficulty swallowing
- Increased saliva
- Extreme tiredness
- Emotional or cognitive changes (in some cases).
How is ALS diagnosed?
The diagnosis of ALS is clinical, which means it depends on assessing the symptoms and ruling out other diseases. There is no single test that confirms ALS straight away.
Normally, the neurologist carries out:
- A detailed neurological examination
- Electromyography (to analyse the electrical activity of the muscles)
- An MRI scan
- Blood and urine tests
- Muscle or nerve biopsies, in some cases.
Unfortunately, the whole process can take time, which delays the start of supportive treatment.
Does ALS have a cure? What is the treatment?
To date, ALS has no cure, but there is medication that can help slow the progression of the disease and preserve some functions for longer. The results vary from person to person, but the aim is always to provide comfort, relieve symptoms and maintain independence as far as possible.
Treatment requires an integrated, multidisciplinary approach, which may involve:
- Physiotherapy and occupational therapy
- Speech and language therapy
- Nutritional support (and, in many cases, tube feeding)
- Non-invasive ventilation, when breathing becomes compromised
- Equipment to support mobility and communication.
Throughout the whole process, it is essential to have a specialised team: doctors, physiotherapists, speech and language therapists, dietitians, psychologists, carers and other professionals who help adjust the care plan to each person’s needs.
Although there is still no cure, scientific research has been advancing in leaps and bounds. In 2023, the first treatment targeting a genetic mutation associated with ALS – the SOD1 gene – an inherited form of the disease, was approved in the USA, representing a milestone in personalised medicine (Mass General Brigham).
Innovative approaches are also being studied, such as immunotherapy with monoclonal antibodies, which could help slow the progression of the disease (OHSU).
Another notable advance came in the area of assistive technology: an experimental brain implant allowed a patient with ALS to regain the ability to communicate through a brain-computer interface, reaching a speed of up to 32 words per minute (Reuters).
What is the life expectancy of people with ALS?
The average life expectancy after diagnosis varies between two and five years, although there are exceptions. The physicist Stephen Hawking, for example, lived with the disease for decades.
Everything depends on the speed of progression and the areas of the body initially affected. The bulbar form, which affects speech and swallowing early on, tends to progress more quickly.
Respiratory failure is the main cause of death in the most advanced cases. For that reason, investing in supportive treatment right from the start can make a big difference to the quality and length of life of the person with ALS.
Living with ALS: the role of family and carers
Receiving an ALS diagnosis is a difficult moment, both for the patient and for those around them. It is a disease with a profound impact, requiring constant adaptations and ongoing support.
Family carers become key figures in the patient’s life. They are often the ones who ensure daily care, help with basic tasks and provide emotional support. It is essential that carers also have support. Mutual-support groups, psychological care and planned respite are ways of looking after those who do the caring.
21 June marks World Amyotrophic Lateral Sclerosis Day, a date intended to give a voice to people living with this disease and to reinforce the importance of research, support for families and raising awareness of a reality that is still little known to many.
At APELA (the Portuguese Amyotrophic Lateral Sclerosis Association), every day is lived with the mission of giving a voice, support and hope to those facing amyotrophic lateral sclerosis. Because no one should go through this disease alone.
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