Amyotrophic lateral sclerosis (ALS)
Charcot's disease; amyotrophic lateral sclerosis; myatrophic lateral sclerosis; Lou Gehrig Syndrome;
engl .: motor neuron disease; abk .: ALS
The Amyotrophic Lateral Sclerosis is a progressive, degenerative disease of the Musculature controlling nerve cells (Motor neurons), which can lead to spastic as well as flaccid paralysis in the entire area of the body. Through those involved in the course Breathing and swallowing muscles After years of disease progression of amotrophic lateral sclerosis, patients usually die of one lung infection or on Lack of oxygen.
The frequency of amyotrophic lateral sclerosis is comparatively rare. For every 100,000 inhabitants in Germany there are around 3 to 8 new cases per year. Men are around 50% more often affected than women and the most common illness period is between 50 and 70 years of age. Earlier beginnings are rarely observed.
Of the French neurologist Jean-Marie Charcot (1825-1893) was the first to describe the picture of amyotrophic lateral sclerosis, as well as many other neurological diseases, in the second half of the 19th century. Many individual signs of illness have his surname, as does amyotrophic lateral sclerosis as Charcot's disease can be designated.
The disease became known in the 20th century primarily through the successful and popular Baseball player Lou Gehrig (1903-1941) who had to end his career in 1938 due to unclear muscle weakness and who was diagnosed with the disease the following year. After him the amyotrophic lateral sclerosis also became Lou Gehrig Syndrome called. Another popular ALS patient is Stephen Hawking, in which the disease atypically already broke out in his youth and is milder in the course than in the majority of patients.
The exact cause of the progressive demise of the motor neurons is not known (Amyotrophic Lateral Sclerosis). Oxidative stress for the nerve cells was discussed as a possible trigger, since almost 10% of those affected have a gene mutation in an enzyme that protects against oxidative stress (Superoxide dismutase; SOD-1) can be found. This was supported by a slightly increased risk of illness Smokerswhose body is increasingly exposed to oxidative stress, however, it was found that the functionality of the enzyme has no influence on disease, but the faulty spatial structure of the enzyme, which favors the sticking together of many such enzymes. This aggregate formation disrupts the cell functions of the affected nerve cells and the disease mechanism is similar to that of the bovine spongiform encephalopathy (BSE) or the Alzheimer's disease. It is not yet known why only motor neurons are affected. Among other things, other gene locations are known for a rare, familial form of amyotrophic lateral sclerosis, the mutation of which is associated with an increased occurrence of the disease.
Two motor nerve cells are connected one behind the other to stimulate the muscles. The first Motor neuron originates in the brain and is switched to the second motor neuron in the spinal cord at the level where it connects to a peripheral nerve in order to reach the corresponding muscle. If the second motor neuron (peripheral nerve) is damaged, one will develop flaccid paralysis, while if the first motor neuron (brain / spinal cord) is damaged, a spasticity entry. Since both motor neurons are affected, the common occurrence of flaccid and spastic paralysis is typical for amyotrophic lateral sclerosis, which begin so insidiously that the patient's impairment is initially only as "Clumsiness" be dismissed. From Gait disorders or Gripping problems hand due to slackness or stiffness of the musculature, up to and including difficulty holding the trunk and later difficult breathing various restrictions are to be expected. The deficits usually begin in the extremities and the trunk and bulbar muscles are only involved in the later course of the disease (Swallowing and speaking muscles), however, in about one in three patients, the disease begins as a bulbar form with impaired swallowing and speaking, resulting in a lumpy-slurred language and leads to increased swallowing. The speech disorder can make communication aids such as alphabet boards, writing boards or similar necessary so that the patient can make himself understood. Furthermore, a regression of the flaccid paralyzed muscles is a typical symptom that can easily be observed in the hand due to its loss of shape, but also occurs elsewhere on the body. Never concerned is the muscles of the eyes.
What are the first symptoms / early symptoms?
It is characteristic of the early symptoms of amyotrophic lateral sclerosis that, like the actual course of the disease, they can take very different forms. However, the first symptoms are often very unspecific and often do not attract the attention of those affected. This often leads to stumbling or problems with holding things that are usually dismissed as clumsiness by the patient. Over time, however, these conditions usually increase and slowly the first painless symptoms of paralysis are noticed in the arms or legs.
The so-called bulbar onset must be distinguished from this type of rule. This first affects nerve cells in the brain stem that are responsible for swallowing or speech production. The first symptoms are an incipient swallowing disorder or speech disorders. However, this form is very rare.
One of the most important features of amyotrophic lateral sclerosis is that the progressive paralysis occurs without pain or abnormal sensations. It is therefore rather atypical for those affected to report a pronounced tingling sensation or other forms of discomfort such as itching.
The occurrence of speech disorders is very typical of the bulbar course of amyotrophic lateral sclerosis (ALS). It is characteristic of this that it begins in the area of the brain stem. The degeneration of the motor nerve cells can lead to speech disorders and swallowing disorders. Therefore, the symptoms mentioned are at the beginning of the course symptoms.
The more common course in which the first symptoms affect the legs and / or arms must be distinguished from this. With this form of the course, the disease only spreads to the brain stem after some time due to the continuously increasing course, after already existing symptoms in the extremities, and thus to swallowing and speech disorders.
It is characteristic of ALS that the increasing paralysis is described by most patients as painless, as the isolated destruction of the motor nerve cells of the spinal cord does not trigger any pain stimulus. Despite this fact, some patients report severe pain, which increases as the disease progresses. The exact reason for this has not yet been finally clarified. Some patients may develop severe headaches as a result of the lack of oxygen due to paralysis of the respiratory muscles.
The exact course of the disease is generally very difficult to predict and can take many different forms. Basically, the symptoms of amyotrophic lateral sclerosis are continuously progressive and thus, once paralysis symptoms have occurred, they cannot go away again.
The early symptoms are usually the first awkwardness, such as tripping or having trouble holding things. After a while, the first symptoms of paralysis begin in the arms and / or legs. In some cases, these can be accompanied by spastic symptoms, i.e. increased muscle tension. With the exception of the heart, the eye muscles and the sphincter muscles of the bladder and intestine, all muscle parts can be affected.
Since ALS is a continuous process, more and more muscle groups are affected by the paralysis. Ultimately, the breathing muscles, especially the diaphragm, which can cause shortness of breath. At the end of the course, in almost all cases, there is complete paraplegia (tetraplegia). In general, the average life expectancy is significantly reduced at 3 years.
Typical age at the onset of the disease
Most patients are diagnosed with ALS between the ages of 50 and 70. The average maximum age is 58 years. The disease rarely occurs in younger patients between the ages of 25 and 35. The best-known example of such a case is Steven Hawking, who showed the first symptoms of ALS at the age of 21.
The patient usually leads the patient to the doctor Loss of strength in their extremities or that Observe muscle fasciculationsthat classically occur after manipulating a muscle as its undulating, rather slow contraction. Especially Tongue fasciculations are typical of amyotrophic lateral sclerosis. By looking at the body, the patient and the doctor can determine the muscle wasting, which now confirms the suspicion of disease. A simple reflex test can prove the simultaneous presence of flaccid and spastic paresis (paralysis), with which the diagnosis of amyotrophic lateral sclerosis is already made. The classic Diagnostic trias reads: Spinal Muscular Atrophy, Bulbar Paralysis, and Spastic Spinal Paralysiswhich can then be determined by electromyographic (Measurement of electrical muscle activity) and electroneurographic (Measurement of electrical nerve activity) Research is confirmed. In addition, ALS patients can experience uncontrolled emotional reactions in the form of cry, Laugh or yawning are observed (affect lability), which can sometimes be provoked in conversation by appropriately triggering content. Ultimately, after death, the neurons in the motor areas of Cerebrum, Pathway in the spinal cord and found in the anterior horns of the spinal cord (amyotrophic lateral sclerosis).
The laboratory tests that are carried out when diagnosing amyotrophic lateral sclerosis are primarily aimed at excluding other diseases that can trigger similar symptoms. These include muscle diseases and thyroid changes.
As a rule, a normal blood count, electrolytes, creatinine kinase (kidney value), thyroid values and antinuclear (against antigens in the cell nucleus) antibodies are determined. In the presence of ALS, it is not to be expected that these values show large fluctuations, but that they are in the normal range. Sometimes it may be necessary to carry out further diagnostics in the form of muscle biopsies or lumbar punctures.
MRI of the head
If amyotrophic lateral sclerosis is suspected, an MRI of the head is also performed in most patients as part of the diagnosis. This serves primarily to rule out other diseases of the nervous system that can be associated with similar symptoms. These include, for example, encephalopathy (damage to the brain) or inflammation of the brain (encephalitis), the typical features of which can be clearly seen in an MRI. In most cases, ALS is accompanied by no image changes.
Read more on the subject at: MRI of the head
A cure the amyotrophic lateral sclerosis is not yet possible, but various therapeutic approaches slow down the process or serve to improve quality of life. It is important to inform the patient at an early stage in order to obtain a corresponding treatment success with their consent and active cooperation in the sense of slower progression of the disease and increased lifetime. In terms of medication, the Glutamate antagonist riluzole used, which counteracts the destruction of nerve cells in amyotrophic lateral sclerosis. physiotherapy and Occupational therapy aim to train and maintain the everyday practical and other motor skills of the patient or to identify alternative movement strategies. The focus here is on maintaining effective breathing mechanics for as long as possible. There is also a speech therapy support the receipt and Training of speaking and swallowing skills, of which the latter is especially important for the protection of the lung is because progressive swallowing disorders sooner or later lead to pneumonia and its fatal outcome. Medicines are also used here to dissolve secretions in the airways more easily and to facilitate their removal, as well as substances that limit saliva production, as this reduces the risk of swallowing. Muscle spasms, their spasticity and the resulting pain should be with Calcium supplements and Painkillers be alleviated. With more and more affected Respiratory muscles there is the possibility of one mechanical ventilationthat can also be done at home. With it, however, the risk of infections of the respiratory tract and lungs increases, which is why with Antibiotics If an infection is suspected, appropriate therapy must be started quickly. In addition to mechanical home ventilation, the greatest fear among patients is the Death from suffocation, which is why opiates are used in the last phase of the disease to reduce anxiety and respiratory drive. This falls under the part of palliative therapy that accompanies the dying and can be combined with psychotropic drugs to combat anxiety. Due to the psychological stress caused by the prognosis of the disease, psychosocial care is also an important component of treatment which, in combination with self-help groups, benefits not only the patient, but also their relatives. Psychiatric drugs can be helpful here as well, if there is to depressions or to dampen uncontrolled emotional reactions such as laughing and crying (amyotrophic lateral sclerosis).
In addition to the possible symptoms already mentioned above, which progressively worsen, in the usual forms of amyotrophic lateral sclerosis, after three to five years after the first onset, an inadequate ability to breathe can be expected, which can lead to death either through pneumonia or asphyxiation.
Duration of illness
Amyotrophic lateral sclerosis is a chronic degenerative disease that progresses continuously. It occurs in most cases in patients between 60 and 70 years of age and has an extremely poor prognosis with an average life expectancy of 3 years. When exactly the first symptoms will appear and to what extent cannot be predicted. A cure for the disease is currently not possible. Thus, the duration of the illness is difficult to predict and can vary greatly between individuals.
Is there a cure in sight?
The therapy of amyotrophic lateral sclerosis is currently limited to alleviating the symptoms. A therapy that pursues a healing (curative) approach does not yet exist at the current state of research. However, there are now some approaches of what such a therapy could look like. ALS is triggered by the destruction of so-called alpha motor neurons in our spinal cord and the brain stem. The task of these nerve cells is to relay information from the brain to the muscle. If these nerve cells go under, no more movement commands can be passed on from the brain to the muscles and paralysis occurs. The focus of research is now on promoting the new growth of such nerve cells, which could then replace the destroyed cells and thus forward information would be possible again.However, these approaches are still too early to be able to make statements about their effectiveness.
The average life expectancy in patients with amyotrophic lateral sclerosis is greatly reduced. After the diagnosis, a survival time of 3 years is assumed. However, one in ten of those affected survives for more than five years. Only five percent of those affected live longer than ten years after the diagnosis. The most famous example of a life expectancy that is well above average is Steven Hawking.
Heredity / Hereditary Disease
To what extent amyotrophic lateral sclerosis is a hereditary disease is very controversial in science. It can be seen that almost all patients with ALS have similar genetic changes. In most cases, various genes (TARDP, C9ORF72, ...) are affected, which cause a pathological accumulation of certain proteins, which, it is discussed, lead to the destruction of these nerve cells. However, it remains unclear why this process only has a specific effect on the alpha motor neurons of the spinal cord and the brain stem.
Ice Bucket Challenge
Behind the term “Ice Bucket Challenge” hides a fundraising campaign started in 2014, the exact beginning of which is unknown. The aim was to collect as much money as possible that was donated to research and therapy for ALS. The exact challenge was that you had to pour a bucket of ice water over your head and then donate € 10 for this purpose. Now you also determine friends to whom you give this challenge. The donation campaign spread all over the world and raised a total of around 42 million euros for ALS research.