Amyotrophic lateral sclerosis (ALS)

ALS

Amyotrophic lateral sclerosis (ALS) is a chronic progressive degenerative disease of the nervous system. In particular, the motor nerve cells, the so-called motoneurons, are damaged, which can lead to progressive muscle atrophy in the arms and legs, speech and swallowing disorders, and breathing problems. ALS significantly shortens life expectancy and is not curable. However, with the right therapies, symptoms can be alleviated, quality of life can be maintained, and the progression of the disease can be delayed.

Overview: What is amyotrophic lateral sclerosis?

Amyotrophic lateral sclerosis (ALS) is an incurable, severe disease of the nervous system. Increasingly, it is primarily motor nerve cells (motoneurons) that are damaged – i.e. nerve cells that are responsible for the control and regulation of muscles and movements. Muscles affected include those in the arms and legs, the muscles of speech, chewing and swallowing, and the respiratory muscles. The type, severity and course of symptoms vary from one affected person to another.

Amyotrophic lateral sclerosis – incidence and age

In Switzerland, approximately 500 to 700 people suffer from amyotrophic lateral sclerosis. The number of new cases is estimated at 100 to 150 per year. In most cases, the disease breaks out between the ages of 50 and 70. However, there are also younger adults as well as older people with ALS. Overall, men fall ill slightly more often than women.

Amyotrophic lateral sclerosis: causes and risk factors

In a few cases, amyotrophic lateral sclerosis is hereditary. Experts refer to this as the familial form of ALS (fALS). However, the vast majority of patients are affected by the so-called sporadic form of ALS, the cause of which is unclear.

Hereditary (familial) form of ALS

Experts speak of familial ALS when at least two family members have amyotrophic lateral sclerosis, or when a genetic defect causing ALS has been detected. But this is rarely the case: fALS accounts for only about five percent of all cases of ALS. Defects (mutations) in various genes can cause fALS. These genes are responsible in various ways for the normal functioning of motor neurons.

Sporadic form of ALS

In the sporadic form of the disease – the majority of all ALS diseases – researchers are still in the dark as to the cause. Pathologically, pathological deposits (aggregates) of a certain protein, the so-called TDP43 protein, are found in the affected nerve cells of ALS patients. Such protein aggregates are also found in other neurodegenerative diseases such as Parkinson’s disease (synuclein aggregates) or Alzheimer’s disease (amyloid and tau aggregates). There is no convincing scientific evidence that sporadic ALS could be due to an autoimmune disease or poisoning by toxins ingested with food.

Neuron illustration

Symptoms: Amyotrophic lateral sclerosis

The course of amyotrophic lateral sclerosis can vary greatly from individual to individual. The initial symptoms depend on which motor neurons are damaged first. Accordingly, there are three courses of ALS:

  • Spinal progression form of ALS: It is the most common progression form with a share of about 70 percent. Due to damage to motor neurons in the spinal cord, the first symptoms here are muscle weakness, muscle atrophy and fine muscle twitches (“fasciculations”) in the extremities. Damage to motor neurons in the brain can result in Spasticity and increased reflexes and it can also come to Muscle cramps In some affected individuals, ALS begins in one hand (e.g., with increasing clumsiness when writing), then spreads to the other hand and eventually to the arms and legs. In other sufferers, the upper arms and shoulders are affected first, or the disease begins with muscle weakness in the lower leg and foot (e.g., with gait instability).
  • Bulbar course of ALS: In about 20 to 30 percent of patients, motor neurons in the brain stem are damaged first, causing weakness of the speech, chewing and swallowing muscles. The first symptoms of the disease are therefore speech or swallowing disorders . Swallowing disorders can lead to reduced swallowing of saliva , which can then run out of the mouth. The reduced control of the mimic muscles can lead to uncontrollable laughing and crying.
  • Respiratory course of ALS: Rarely, the respiratory muscles are most affected at the beginning of the disease. The first symptoms are increasing breathing problems, for example when climbing stairs or doing sports.

Regardless of which form the disease begins with – as it progresses, those affected often develop symptoms from all three forms of progression. Over time, the muscles that no longer work properly lose mass(muscle atrophy), bulbar dysfunction occurs, and the respiratory muscles are also frequently affected as the disease progresses.

Diagnosis

Amyotrophic lateral sclerosis – diagnosis with us

If ALS is suspected, we will first take a picture of your medical history (anamnesis). Among other things, we will ask you in detail about your symptoms (What symptoms do you have? How long have they existed? Have they changed over time? etc.). If applicable, inform us of any known cases of ALS in your family.

This is followed by a physical examination. Among other things, we will measure your weight and height, look for signs of muscle weakness and wasting, and test your reflexes. We also look for involuntary, visible muscle twitches (fasciculations), which are common (but not unique) to ALS. We also check speech, swallowing and respiratory function.

Instrumental neurological examinations are essential if ALS is suspected. This includes measuring the electrical activity of individual muscles as part of electromyography (EMG). Needle electrodes are inserted into the muscle for this purpose. We use them to measure the electrical activity of the muscle at rest and when it contracts. This gives an indication of whether there is (muscle) nerve damage.

The functionality of nerves of the affected body region is also tested, with the help of electroneurography (ENG). Electrodes are used to measure the nerve conduction velocity.

If at least two members of your family already have ALS, you may have a hereditary form of the disease. We would then discuss in detail with the affected person whether a genetic test might be useful. A blood sample will then be used to search for those gene mutations that can lead to hereditary ALS. However, such neurogenetic testing may be performed only after detailed consultation and careful consideration by the specialist.

Clarification of other causes

In order to make a diagnosis of ALS, other diseases with similar symptoms (differential diagnoses) must first be excluded. This may require further investigation. Some examples:

  • Magneticresonance imaging (MRI) can be used to obtain detailed images of the brain and spinal cord. This reveals whether a tumor or an inflammatory disease of the central nervous system is the cause of the symptoms.
  • During a cerebrospinal fluid (CSF) puncture, we remove a sample of cerebrospinal fluid (CSF) from the spinal canal on the back to have it tested in the laboratory for signs of autoimmune disease or infection.
  • Special blood tests can also help to check autoimmune diseases and some metabolic and tumor diseases as the cause of the symptoms.

Amyotrophic lateral sclerosis: prevention, early detection, prognosis

To date, there is no way to prevent amyotrophic lateral sclerosis. In families with multiple cases of ALS, the question arises whether healthy members (without suspicious symptoms) should be tested for the ALS genes known to date. This decision should be carefully considered and discussed with us. The detection of ALS gene mutations in oneself can represent a considerable psychological burden – especially since a possible onset of the disease cannot be prevented at present.

Amyotrophic lateral sclerosis – course and prognosis

The course of amyotrophic lateral sclerosis varies from person to person – both in terms of symptoms and the speed at which the disease progresses.

As mentioned above, the first symptoms usually appear in the extremities (e.g., problems working with the hands or gait unsteadiness). In the remaining cases, speech, chewing and swallowing difficulties are usually the first signs of disease. Very rarely, ALS starts with breathing problems.

Over time, the disease then spreads to other muscle groups – sometimes within a few weeks, in other cases only after months. Sooner or later, in any case, there are further symptoms depending on the muscles affected (e.g. walking, chewing, breathing disorders).

How quickly motor neuron damage progresses varies. Unfortunately, amyotrophic lateral sclerosis usually progresses relatively quickly: those affected die on average three to five years after the onset of the disease. However, there are also patients whose condition deteriorates only slowly and who therefore survive longer – in rare cases even more than ten years.

Amyotrophic lateral sclerosis: treatment is planned individually

Amyotrophic lateral sclerosis cannot yet be treated causally. However, it is possible to treat the various symptoms optimally, with the aim of improving the quality of life and helping those affected to live independently for as long as possible. An individually adapted therapy plan is designed for each ill person. This is based on different building blocks – depending on the type and severity of the symptoms.

Medications for amyotrophic lateral sclerosis

As a person affected by ALS, you should start taking riluzole as early as possible. This agent is approved for the treatment of amyotrophic lateral sclerosis and can delay the progression of the disease, increasing your life expectancy. Riluzole decreases the concentration of the nerve messenger glutamate between motor neurons in the central nervous system. This so-called glutaminergic neurotransmission plays an important role in neurodegenerative processes, so that with a reduction in glutamate action, motor neuron degradation may be inhibited.

In addition, depending on your symptoms and findings, we may prescribe various medications to relieve your symptoms. These include, for example, remedies for muscle spasms, involuntary muscle tension (spasticity), and saliva dripping. If you have difficulty breathing and coughing as a result of weakened respiratory muscles, you may be given medications that decrease mucus production in the airways. In addition, respiratory infections are treated early with antibiotics to prevent them from spreading to the lungs in the first place.

If you suffer from sleep disorders, anxiety, restlessness or depressive mood due to your illness, we can also prescribe suitable medication against this.

Physiotherapy, occupational therapy and speech therapy

Physiotherapy measures such as gymnastics and active physical training within exercise limits are very important in amyotrophic lateral sclerosis. This can be used to activate muscle groups and counteract progressive muscle atrophy. Special breathing exercises (respiratory gymnastics) and learning coughing techniques are also often useful.

In occupational therapy, you train motor functions and skills that are increasingly impaired due to illness.

Speech therapy includes training exercises for the muscles of speech, chewing and swallowing. The speech therapist can also show you special swallowing techniques and give you tips for suitable foods as well as consistencies (e.g. solid foods) for chewing and swallowing problems

Breathing support

Symptoms may occur with weakness of the respiratory muscles in ALS. Respiratory muscle weakness is often present first at night when lying down and can then lead to disturbed nighttime sleep, morning headaches, and fatigue and tiredness during the day. With appropriate examinations of respiratory function, we can detect these disorders and, if necessary, start so-called non-invasive ventilation. This small home therapy device is best fitted during a short hospitalization in our pulmonology clinic. Subsequently, ventilation can be used at home, especially during sleep. This usually significantly improves both sleep quality and how you feel during the day. Another cough support device (cough assistant) can help you cough mucus out of your airways. This reduces the risk of pneumonia.

Aids for everyday life

Aids for physical impairments caused by ALS include orthoses, for example. They can stabilize, unload, guide or correct an extremity or the trunk (e.g. a cervical collar for weak head posture muscles). Other aids include seat cushions, eating utensils with thick handles, writing aids, speech computers, rollators and wheelchairs. Doctors and therapists (e.g. occupational therapist) advise and support you in the selection and use of suitable aids.

Nutrition in ALS

If you have problems chewing and swallowing as a result of amyotrophic lateral sclerosis, there is a risk that you will no longer eat a balanced and adequate diet, which in turn can greatly accelerate muscle deterioration. In addition, there is a risk of pneumonia due to possible ingestion. Nutritional supplements and nutritional drinks can then often be used to ensure that your body still receives all the necessary nutrients in sufficient quantities. Swallowing therapy with a specialized speech therapist or occupational therapist can support the swallowing act in many cases. In severe cases, artificial feeding via a stomach tube (PEG tube) may be necessary, but this is experienced as very helpful by those affected, as the daily “stress of eating” is eliminated, adequate nutrition is ensured and the risk of complications such as pneumonia is reduced.

Amyotrophic lateral sclerosis: What you can do yourself

Many therapeutic measures for amyotrophic lateral sclerosis are in the hands of doctors and therapists. However, you as the affected person can support the success of the treatment, for example by regularly performing the recommended exercises.

Many sufferers benefit from contact with others who are affected. For example, join a support group for people with ALS if you have the opportunity. The regular meetings can be a welcome change from the stressful daily life and offer the opportunity to talk with other affected people about life with ALS. We will be happy to provide you with more information.

Amyotrophic lateral sclerosis progresses inexorably and increasingly restricts the patient’s own independence. That’s why you should make plans for the future early on. Fulfill your desires and goals while you are well. But also discuss with us and your family how you would like to be cared for in the event of a serious illness, such as artificial feeding and ventilation. Also think about the possibility of a living will. Do not be afraid to seek psychological help if you are not coping well emotionally with your situation. The psychological stress also damages your body and can make living with ALS even more difficult.

Self-help groups

The exchange with people who are affected by the same disease can be a great support in coping with the disease. Advice on finding a suitable self-help group is available from Selbsthilfe Zürich. Self-Help Zurich and the University Hospital Zurich are cooperation partners in the national project “Health literacy thanks to self-help-friendly hospitals”.