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 paralysis once it has occurred cannot disappear again. The early symptoms are usually initial awkwardness such as stumbling or problems holding things.
After some time, the first paralysis symptoms start in the area of the arms and/or legs. In some cases, these can be accompanied by spastic symptoms, i.e. an increase in muscle tension. This can affect all muscles with the exception of the heart, eye muscles and the sphincters of the bladder and intestines.
Since ALS is a continuous process, more and more muscle groups are affected by the paralysis. Finally, the respiratory muscles, especially the diaphragm, can also be affected, which can then lead to respiratory distress. At the end of the course, in almost all cases, complete paraplegia (tetraplegia) is the result.
In general, the average life expectancy is greatly reduced to 3 years. In most patients ALS is diagnosed between the ages of 50 and 70. The average peak age is 58 years. Only very rarely does the disease occur in younger patients between the ages of 25 and 35. Probably the best known example of such a case is Steven Hawking, who already showed the first symptoms of ALS at the age of 21.
Patients usually go to the doctor when they experience a loss of strength in their extremities or when they observe muscle fasciculations, which classically occur after manipulation of a muscle as its wave-like progressive, rather slow contraction. Tongue fasciculations in particular are typical for amyotrophic lateral sclerosis. By observing the body, the patient and the doctor can determine the muscle atrophy, which now substantiates the suspicion of the disease.
A simple reflex test can prove the simultaneous presence of flaccid and spastic paresis (paralysis), which is already the diagnosis of amyotrophic lateral sclerosis. The classic diagnostic triad is spinal muscular atrophy, bulbar paralysis and spastic spinal paralysis, which is subsequently confirmed by electromyographic (measurement of electrical muscle activity) and electroneurographic (measurement of electrical nerve activity) examinations. In addition, ALS patients may experience occasional, uncontrolled emotional reactions in the form of crying, laughing or yawning (affective lability), which can sometimes be provoked in conversation by correspondingly triggering content.
Finally, after death, autopsies can be performed to determine nerve cell death in the motor areas of the cerebrum, the pathways in the spinal cord and in the anterior spinal cord horns (amyotrophic lateral sclerosis). The laboratory tests performed in the diagnosis of amyotrophic lateral sclerosis primarily aim to exclude other diseases that may cause similar symptoms. These include muscle diseases and thyroid gland changes.
A normal blood count, electrolytes, creatinine kinase (kidney value), thyroid gland values and antinuclear (against antigens in the cell nucleus) antibodies are usually determined. If ALS is present, these values are not expected to show large deflections, but are within the normal range. Sometimes it may be necessary to perform further diagnostics in the form of muscle biopsies or lumbar punctures.
If amyotrophic lateral sclerosis is suspected, an MRI of the head is also performed for most patients as part of the diagnostic procedure. This serves primarily to exclude other diseases of the nervous system that may 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. A cure for amyotrophic lateral sclerosis is not yet possible, but various therapeutic approaches slow down the progression or serve to improve quality of life. It is important to inform the patient at an early stage in order to achieve a corresponding treatment success in terms of slower disease progression and increased life expectancy with the patient’s consent and active cooperation.
The glutamate antagonist riluzole is used as a drug to counteract the destruction of nerve cells in amyotrophic lateral sclerosis. Physiotherapy and occupational therapy aim to train and maintain the patient’s everyday practical and other motor skills or to show alternative movement strategies. Especially the longest possible preservation of an effective breathing mechanism is the main focus.
In addition, logopaedic care serves to maintain and train speaking and swallowing skills, the latter of which is particularly important for the protection of the lungs, since progressive swallowing disorders sooner or later lead to pneumonia and its fatal outcome. Here, too, drugs are used to loosen secretions in the airways more easily and to facilitate their removal, as well as substances that restrict saliva production, as this reduces the risk of swallowing. Muscle cramps, their spasms and the pain they cause should be relieved with calcium preparations and painkillers.
If the respiratory muscles are also increasingly affected, mechanical ventilation is possible, which can also be performed at home. However, this increases the risk of respiratory tract and lung infections, which is why antibiotics must be administered quickly if an infection is suspected. Apart from home mechanical ventilation, the greatest fear of patients is death by suffocation, which is why opiates are used in the last phase of the disease to reduce anxiety and the urge to breathe.
This already falls within the dying phase of palliative therapy and can be combined with psychotropic drugs to combat anxiety. Due to the psychological burden of the disease prognosis, psychosocial care is also an important treatment component which, in combination with self-help groups, benefits not only the patients but also their relatives. Psychotropic drugs can be just as helpful here when depression occurs or to dampen uncontrolled emotional reactions such as laughing and crying (amyotrophic lateral sclerosis).