ALS

Amyotrophic Lateral Sclerosis (ALS), also known as motor neuron disease, is a neurological disorder that gradually affects the body’s ability to move.

In ALS, the nerves that carry messages from the brain to the muscles begin to malfunction. This causes the muscles to weaken over time.

As the disease progresses, the following may be affected:

• movement (e.g., walking, using hands)
• speech
• swallowing
• breathing

It is important to know that:

• the disease is not contagious  
• the patient is not responsible for its onset  
• senses such as vision and hearing usually remain unaffected  
• The course of the disease varies from person to person, and each case is unique.

Amyotrophic Lateral Sclerosis (ALS) is a relatively rare disease.

Each year, approximately 1–2 people per 100,000 of the population are diagnosed with ALS.

It usually occurs in adults, primarily after middle age and men appear to be affected slightly more often than women.

The course of the disease varies from person to person. In many cases, the disease progresses relatively quickly, while in others it may progress more slowly.

Although the disease is serious, proper support and palliative care can significantly improve the quality of life for patients and their families.

Disease Progression

The progression of the disease varies significantly from person to person. 

Some people live with the disease for several years, especially when they have the right support.

Amyotrophic Lateral Sclerosis (ALS) is not contagious and patients are not responsible for its onset.

In most cases (about 90%), the disease occurs without a family history. This means that it arises “randomly” and is not related to anything the person did or did not do.

A small percentage (about 10%) involves the so-called “familial form,” where there is a family history of the disease.

Even in the latter cases, the likelihood of developing the disease varies and requires an individualized medical evaluation.

Talk to your doctor, if you have any concerns and you need more information.

It’s normal to have questions and concerns about heredity. You’re not alone in this.

The exact cause of amyotrophic lateral sclerosis (ALS) is not yet known.

Scientists believe the disease is caused by a combination of factors, which may include:

• age (it most often occurs after middle age)  
• genetic factors (in a small percentage of cases)  
• environmental influences  

Some studies have examined factors such as smoking or exposure to certain substances, but they have not established a clear and direct causal relationship.

It is important to remember that, in most cases, the disease occurs without a specific cause and through no fault of the person themselves.

The symptoms of Amyotrophic Lateral Sclerosis (ALS) vary from person to person and usually appear gradually.

In the early stages, you may observe the following:

• weakness in the arms or legs  
• difficulty walking or performing daily activities  
• muscle cramps or “twitching”  
• difficulty with fine motor skills (e.g. writing, buttoning clothes)

As the disease progresses, the following may be affected:

• speech (slower or harder to understand)  
• swallowing (difficulty eating or drinking)  
• breathing  

In some cases, the following may occur:

• changes in mood or behavior  
• difficulties with concentration or memory  

It is important to know that:

• the senses (sight, hearing, touch, taste, and smell) are usually preserved  
• every person experiences the disease differently  

If you notice any changes or new symptoms, it is important to contact your healthcare team.

The gradual onset of symptoms can cause anxiety or uncertainty. It is important to remember that you are not alone and that support is available at every stage of the disease.

The diagnosis of Amyotrophic Lateral Sclerosis (ALS) is not based on a single test.

The doctor will take a detailed medical history and perform a clinical examination, assessing the symptoms and their progression.

Subsequently, certain tests may be ordered, primarily to rule out other conditions with similar symptoms.

These may include:

• Electromyogram (EMG)
• Nerve conduction velocity (NCV)
• X-rays and magnetic resonance imaging (MRI)
• Specific blood and urine tests
• Spinal tap
• Cervical myelogram
• Muscle and nerve biopsy
• Comprehensive neurological examination

The diagnosis is made based on a combination of the clinical presentation and test results. In many cases, long-term follow-up is required to confirm the progression of symptoms.