Amyotrophic lateral sclerosis (ALS) is a nerve disease that causes gradual immobility and paralysis of the muscles. The disease is progressive and cannot be cured. However, supportive therapies can slow the progression and have a beneficial effect.
What is amyotrophic lateral sclerosis?
Amyotrophic lateral sclerosis (ALS) is a chronic disease of the nervous system in which the skeletal muscles no longer receive adequate nutrition and atrophy. Amyotrophic lateral sclerosis (ALS) is a chronic disease of the nervous system in the course of which the skeletal muscles are no longer adequately nourished and atrophy. The skeletal muscles are needed for voluntary movements, that is, for example, for the movement of arms and legs. Normally, nerve impulses are sent from the brain via the spinal cord to the muscles, triggering movement. In amyotrophic lateral sclerosis, the nerve cells, known as motor neurons, are damaged to such an extent that they can no longer transmit impulses to the muscles. As a result, reflexes no longer function and gradually no movements are possible. The muscles atrophy (waste away) and stiffen. Amyotrophic lateral sclerosis mainly occurs between the ages of 50 and 70. There are two forms of amyotrophic lateral sclerosis. The sporadic form, which means it occurs only sporadically, and the familial form, which occurs clustered in families.
Causes
The causes of amyotrophic lateral sclerosis remain unexplored to date. While it is known that there are genetic causes in the familial form, this form occurs much less frequently than sporadic amyotrophic lateral sclerosis. Symptoms of the disease result from atrophy of nerve cells and certain brain areas responsible for skeletal and facial muscle movement. However, why this degeneration occurs is still unclear. Research results from 2011 suggest that a disturbed protein metabolism is the trigger for amyotrophic lateral sclerosis. It is assumed that damaged proteins are deposited in the nerve cells in the spinal cord and brain and cause them to die. A parallel is seen here with Alzheimer’s dementia, for which proteins are also the triggers. The fact that a mutation (change) in the gene responsible for recycling damaged proteins has been found in those affected by familial amyotrophic lateral sclerosis strengthens the assumption that proteins are involved in the disease.
Symptoms, complaints, and signs
Symptoms of amyotrophic lateral sclerosis (ALS) are caused by the progressive destruction of nerve cells responsible for muscle movement. However, both disease onset and progression can take different forms. Sometimes the disease begins with small motor failures such as constant stumbling or falling down. Often there are problems holding objects caused by muscle weakness or paralysis of the muscles. More rarely, speech or swallowing difficulties already occur at the onset of ALS. It is not possible to predict the exact course of the disease. This depends on the sequence in which certain nerve cells die. However, it is always an irreversible process that continues to progress and eventually leads to death. Typical for ALS are painless paralyses of the muscles, which are combined with increased muscle tension. With the exception of the heart muscle, the eye muscles and the sphincters of the intestine and bladder, all muscle groups can otherwise be affected by the failures. Within the affected muscles, involuntary but painless muscle twitches occur. Furthermore, the affected areas are powerless. Muscle cramps and muscle stiffness occur there. Sooner or later, swallowing and speech disorders occur in many cases. As part of the swallowing disorders, parts of the food can be inhaled and thus enter the respiratory organs. Death occurs after a median course of the disease of three to five years from pneumonia due to food aspiration, choking, refusal of food, or infectious disease.
Diagnosis and course
Symptoms of amyotrophic lateral sclerosis vary widely. It usually begins with various clumsiness, mainly affecting the arms and legs.People stub their toes or stumble when walking, or have difficulty holding objects in their hands and making coordinated movements. Amyotrophic lateral sclerosis can also start with problems speaking or swallowing, depending on whether the brain areas or the motor neurons are damaged first. The further course also shows up differently from person to person and is not very predictable. Some patients suffer from painless paralysis, others tend to have spastic (cramping) seizures and twitching in the muscles. Degeneration of the speech muscles causes speech to become increasingly slurred. Because amyotrophic lateral sclerosis is progressive, more and more of the body’s functions are reduced over time. However, each of the symptoms can also be the sign of another disease and therefore a medical clarification is absolutely necessary. Diagnosis must take place via a process of exclusion, as there are no clear examination methods for amyotrophic lateral sclerosis. Usually, blood tests, magnetic resonance imaging (MRI), neurophysiological examinations, and possibly a cerebrospinal fluid (CSF) examination are performed.
Complications
In amyotrophic lateral sclerosis (ALS for short), there is progressive destruction of the motor neurons, so that the affected person is less and less able to move voluntarily as the disease progresses, subsequently causing severe disability. Patients are dependent on a wheelchair and need care, so the quality of life is very limited. This can lead to severe depression in the affected person, but also in the relatives. Typically, the nerves responsible for the swallowing muscles are affected in the patient, so that proper swallowing no longer functions properly. In addition, ALS patients swallow more easily and thus food residues can get into the windpipe. Since the affected person can no longer cough strongly enough, the person experiences severe shortness of breath and can suffocate in the worst case. In addition, the foreign body can strongly irritate the bronchial tubes and the lungs, so that in the course of time pneumonia can develop. This can sometimes be fatal for the patient. In ALS, the respiratory muscles are later weakened and then paralyzed, so that breathing is severely impaired and patients are dependent on ventilation. In the late stages, paralysis of the patient and cessation of breathing occur, and death of the affected person occurs. The average survival time of an ALS patient after diagnosis is determined is three to five years.
When should you see a doctor?
The problem with amyotrophic lateral sclerosis is that it begins with debilitating but relatively nonspecific symptoms. However, these are so massive in their impact that sufferers should see a doctor immediately. The cause of grasping disorders or paralysis, muscle tremors or atrophy, swallowing disorders and convulsions should be clarified. A visit to a neurologist is necessary. Diagnosis by a neurologist is extensive. First, other neurological diseases such as Parkinson’s disease, polyneuropathies, cerebral hemorrhages, inflammatory nerve diseases and the like must be ruled out. A concrete evidence by which an expert physician could diagnose ALS is missing so far. It is a diagnosis of exclusion. If it is determined that it is indeed amyotrophic lateral sclerosis or ALS, it becomes difficult for the treating physician. This is because there is still no therapy that could cure the disease. Doctors can only treat amyotrophic lateral sclerosis concomitantly or delay the course of the disease for some time. The consulted doctors try to ease the symptoms of ALS patients as long as possible. In addition to specialists, speech therapists, physiotherapists or occupational therapists can also be consulted for this purpose. Medications ensure that overly burdensome secondary symptoms of amyotrophic lateral sclerosis are kept in check or mitigated. Because the course of ALS can vary invididually, the therapeutic measures also vary.
Treatment and therapy
To date, a cure for amyotrophic lateral sclerosis is not yet possible. However, various therapies are available that can favorably influence and slow the progression of the disease. One is drug treatment, which acts on the nerve cells and protects them.Protecting the nerve cells means that they function longer and do not die as quickly. However, to date there is only one drug that has been successfully used to treat amyotrophic lateral sclerosis. Supportive treatment is symptomatic, which means that the symptoms are alleviated. Symptomatic therapy mainly includes physiotherapy and occupational therapy. Splints and walking aids support the muscles, weakening muscle groups are trained, and swallowing and speech disorders are treated. Because the respiratory muscles also weaken in the advanced stages of amyotrophic lateral sclerosis, support is also provided for respiratory functions.
Outlook and prognosis
As a result of this disease, affected individuals suffer a significant reduction in quality of life and also further limitations in their daily lives. In some cases, those affected are then dependent on the help of other people and can no longer cope with everyday life on their own. Patients mainly suffer from severe paralysis and other sensory disturbances. These can occur in all regions of the body and thus restrict everyday life. The affected persons appear clumsy and continue to suffer from speech disorders or swallowing difficulties. These disorders can also make it much more difficult to take in food and liquids, resulting in malnutrition or deficiency symptoms. In many cases, the disease cannot be diagnosed at an early stage, as the onset of symptoms is slow and gradual. Communication with other people can also be significantly limited by the disease. Furthermore, patients often suffer from severe fatigue or headaches. As a rule, the fatigue cannot be compensated by sleep. Disturbances in concentration and coordination also occur. It is usually not possible to predict whether direct treatment is possible. Some complaints can be limited. A complete cure is usually not possible.
Prevention
Prevention against amyotrophic lateral sclerosis is not possible. However, treatment at an early stage of the disease has a very positive effect on the course and slows the progression of symptoms.
Follow-up
Because amyotrophic lateral sclerosis (ALS) is progressive and always fatal in the end, the term aftercare is actually inaccurate. Rather, the aim is to make the increasingly widespread symptoms tolerable and more bearable for the patient by means of long-term treatment. The symptoms of this neurodegenerative disease are complex. The medical care is correspondingly intensive during the entire time that the ALS patient still has ahead of him. Instead of aftercare, which conceptually assumes a later cure or improvement, only co-treatment by pysiotherapists, psychologists or other instances may be indicated in the case of amyotrophic lateral sclerosis. During the entire duration of the disease and in the advanced stage of the disease, the affected persons are dependent on extensive assistance and support measures – also of a technical nature. In this way, they can be given the best possible quality of life. ALS patients, for example, require special nutrition in the advanced stage. With ventilation measures and the help of speech computers or electric wheelchairs, ALS patients can ensure their mobility and participation in life at least to a feasible extent. However, it is doubtful whether all therapeutic possibilities are equally available to all ALS patients. With measures of physiotherapy or occupational therapy, however, a lot can be done for patients with amyotrophic lateral sclerosis. Symptomatic treatment and care is possible, but nothing more.
Here’s what you can do yourself
The diagnosis of “amyotrophic lateral sclerosis” is a great burden for those affected. Psychotherapeutic counseling or exchange in a self-help group can help to adjust to the new situation. In order to master everyday life without assistance for as long as possible, maintaining mobility is extremely important. Regular physical and occupational therapy helps to learn movement patterns adapted to the disease and to compensate for limitations that already occur with the use of assistive devices. By adapting the home environment at an early stage, familiar daily routines can often be maintained for a longer period of time.To assist with household activities, gripping aids, special cutlery and electrical household appliances are available to compensate to a certain extent for a lack of muscle strength. Personal hygiene is also facilitated by the use of assistive devices. Mobility can be maintained with walking aids or, in advanced stages, a power wheelchair. Speech therapy can counteract speech disorders, and if muscle weakness increases, the speech therapist will help select a suitable means of communication. If swallowing causes problems, swallowing therapy and meal preparation tailored to individual needs can bring relief. Physical therapy, combined in many cases with the use of a suction device and the assistance of a caregiver, aids in breathing and expectoration of secretions.
