ALS, or amyotrophic lateral sclerosis, is a progressive neurodegenerative disease that affects the brain, nerve cells located in the brain, and spinal cord. You can find more information below.
What is ALS disease?
Amyotrophic lateral sclerosis , or ALS for short , has been known as a nerve disorder ( neuromuscular disease ) since the mid-19th century . Compared to other neurodegenerative diseases, it is rarely seen. Experts estimate that about two in 100,000 people develop amyotrophic lateral sclerosis each year. The number of new cases of amyotrophic lateral sclerosis is higher in Europe than in other parts of the world.
In most cases, amyotrophic lateral sclerosis occurs between the ages of 50-70 years. It usually begins with muscle weakness and muscle wasting in the extremities. In the later stage, there is a loss (atrophy) of the facial muscles. This may be associated with fronto-temporal dementia.
Involuntary spasms in the extremities, called spasticities, also belong to amyotrophic lateral sclerosis.
Three forms of ALS disease
If amyotrophic lateral sclerosis is diagnosed during a medical examination, the specialist distinguishes three forms:
- Sporadic form : Amyotrophic lateral sclerosis has no identifiable cause.
- Family form : Amyotrophic lateral sclerosis is triggered by a change in genetic information on a chromosome (genetic mutation) passed from parents to their children.
- Endemic form : For reasons not yet clarified, ALS is significantly more common in some areas.
What happens in ALS disease?
Amyotrophic lateral sclerosis is a nerve disease. Nerve cells (neurons) responsible for transmitting commands to the muscles gradually die during the disease, a process that can no longer be reversed.
Commands from the brain and spinal cord are weakened and then transferred to the muscles. Therefore, amyotrophic lateral sclerosis is first manifested by muscle weakness, then symptoms of paralysis appear.
In most patients, amyotrophic lateral sclerosis does not have a negative effect on mental abilities; sensory perception, consciousness and thinking remain completely intact. Only five percent suffer from memory loss.
The situation becomes very difficult for those affected when they are no longer able to cope with daily life during ALS.
ALS disease causes and risk factors
Amyotrophic lateral sclerosis has long been known as a nervous disorder, but the causes of the disease are still largely unknown today. Most diseases occur spontaneously, although there is a certain accumulation in previously exposed families.
Every hundredth patient with ALS has an inherited or newly emerged mutation in a particular gene that is important for cell metabolism. It interferes with the formation of an enzyme that traps free oxygen radicals in the cell. If free radicals are not blocked, these radicals can significantly damage nerve cells. This disrupts the transmission of commands to the muscles, the result is muscle weakness and ultimately complete paralysis.
What are the symptoms of ALS disease?
The clinical picture of ALS can differ significantly on an individual basis. 25 percent of those affected complain of muscle weakness and weakness initially in the hand muscles and later in the arm muscles .
Leg cramps and reduction in facial muscles also characterize amyotrophic lateral sclerosis. Symptoms may first be felt in the feet and legs and only then spread to the arms and facial muscles.
Finally, a decrease in facial expressions is also part of the ALS disease stage. It is caused by the loss of facial muscles and also inhibits the ability to speak. The tongue becomes increasingly slow and confused, and swallowing may also be difficult if amyotrophic lateral sclerosis progresses.
In about 20 percent of those affected by the ALS condition, nerve cells in a particular area of the brain lose their primary function. The first signs to watch out for are a decrease in speech and swallowing function .
Other symptoms of amyotrophic lateral sclerosis include involuntary movements, fasciculations (uncoordinated twitches of muscle bundles), absence of muscle reflexes, often uncontrolled laughter and crying. In the later stage, all forms of ALS are characterized by severe cramps and paralysis.
How is ALS disease diagnosed?
The diagnosis of ALS is confirmed by various medical examinations. While some are mandatory, the doctor treating you may use further testing to rule out other diseases with symptoms similar to those of amyotrophic lateral sclerosis.
Typical examinations for amyotrophic lateral sclerosis include:
- Tests of nerve functions (reflexes, muscle tension, sense of touch, bladder and bowel control)
- mental performance test
- Electromyography and neurography (recording of electrical muscle activity)
- blood tests
- Lung function test
- Magnetic resonance imaging (to distinguish ALS from other neurologic diseases)
- Determination of body weight and body mass index
An ALS diagnosis can also be confirmed by the following tests:
- Muscle biopsy (structure of muscle fibers)
- dementia test
- Magnetic stimulation of motor brain regions (transcranial magnetic stimulation)
- Examination of blood and cerebrospinal fluid for various pathogens (eg HIV and syphilis) or antibodies
- Ear nose throat examination
- Other imaging modalities (eg magnetic resonance imaging of the brain and spinal cord)
- Blood tests for metabolic disorders
- Bone marrow biopsy
- Evaluation of nutritional status
DNA testing for an altered SOD-1 gene is reasonable if amyotrophic lateral sclerosis has previously occurred in the affected person’s family. The SOD-1 gene is responsible for this disease.
How is ALS disease treated?
Amyotrophic lateral sclerosis cannot be cured. Therefore, the goal of any treatment for this disease is to enable those affected to live as long as possible, independently and with as little disturbance.
Patients receive the best care in a clinic that has an interdisciplinary team to treat amyotrophic lateral sclerosis. In addition to neurologists, this includes gastrointestinal specialists (gastroenterologists), pulmonologists, speech therapists, psychologists, physiotherapists and occupational therapists, dentists and dietitians.
The active ingredient riluzole is currently the only recommended drug therapy for amyotrophic lateral sclerosis. Although it does not allow for recovery, it can protect nerve cells from further damage by inhibiting the neurotransmitter glutamate (glutamate antagonist) in the brain. Therefore, Riluzole should be understood as a drug that delays the course of the disease.
The sooner treatment is started, the more it reduces the symptoms of amyotrophic lateral sclerosis. The drug significantly improves life expectancy and quality of life. Other active ingredients are currently being clinically tested and, if successful, will be approved in the coming years.
Remember, the doctor will decide the treatment and which medicine to take.
Treatment of symptoms
In amyotrophic lateral sclerosis, patients can suffer from very different symptoms that are treated individually. Many patients experience breathing problems and shortness of breath because their respiratory muscles no longer work properly. Some medications prescribed by the doctor may be helpful in this regard.
Swallowing problems may require artificial feeding. This is done either through infusions (through a vein) or with an instrument inserted through the abdominal wall directly into the stomach.
Increased salivation (hypersalivation) is also not uncommon in the course of ALS. In this case, some drugs that reduce the effect of the parasympathetic nervous system, which the doctor will prescribe, are used.
Physiotherapy and occupational therapy can also help amyotrophic lateral sclerosis. Symptoms such as uncontrolled muscle twitching or the risk of clot formation in the leg veins (thrombosis) can be reduced in this way.
Pain can usually be well managed with strong pain relievers and other pain relievers. The psychotherapy prescribed by the doctor for the treatment of depression and panic attacks is supported by appropriate drugs.
Those affected have hopes for stem cell therapy. These still undifferentiated body cells are expected to partially replace the destroyed nerve cells. The cells are removed from the patient’s blood or bone marrow, grown and eventually implanted into the damaged areas. Despite some positive results, a final evaluation of this treatment is currently not possible.