Amyotrophic lateral sclerosis (ALS) is a chronic degenerative disease of the central nervous system. Patients suffer from progressive muscle paralysis. They have to rely on a wheelchair early, but later they also have difficulty swallowing, talking or breathing. In many cases ALS leads to death within a few years. But there are also people like astrophysicist Steven Hawking, who lived decades with the disease. Read more about signs and treatment of Amyotrophic Lateral Sclerosis here.
Amyotrophic lateral sclerosis: description
Amyotrophic lateral sclerosis (also known as ALS, Myatrophic Lateral Sclerosis, Charcot’s disease or Lou Gehrig syndrome) has been known as a nervous disease since the mid-19th century. Compared to other neurodegenerative diseases, it is relatively rare; according to experts, about two out of 100,000 people suffer from 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 and 70 years. It usually begins with muscle weakness and muscle atrophy in the extremities. In the later course, it then leads to the loss (atrophy) of the facial muscles. This can be accompanied by a fronto-temporal dementia. Also involuntary spasms on the extremities, so-called spasticities, belong to amyotrophic lateral sclerosis. ,
The three forms of amyotrophic lateral sclerosis
If the medical examination diagnoses amyotrophic lateral sclerosis, a person skilled in the art will distinguish between three forms:
- Sporadic form: Amyotrophic lateral sclerosis has no obvious cause.
- Familial form: Amyotrophic lateral sclerosis is triggered by a change in genetic information on a chromosome (genetic mutation), which is passed on from parents to their children.
- Endemic form: For some unknown cause, ALS disease is much more common in some areas.
What happens in amyotrophic lateral sclerosis?
Amyotrophic lateral sclerosis is a nervous disease. The nerve cells (neurons), which are responsible for transmitting the commands to the muscles, gradually die in the course of the disease – an irreversible process. Thus, the commands from the brain and spinal cord become weaker and later passed on to the muscles. The amyotrophic lateral sclerosis is therefore expressed first by muscle weakness, later causing paralysis.
In most patients, Amyotrophic Lateral Sclerosis has no negative effects on mental abilities: sensory perceptions, consciousness and thinking remain completely intact. Only about five percent suffer from memory loss. It is all the more tragic for the affected persons if they can no longer cope with their everyday lives alone in the course of the ALS disease. Amyotrophic lateral sclerosis is not curable and those affected usually die within just a few years.
Amyotrophic lateral sclerosis: symptoms
The ALS picture may differ significantly individually. 25 percent of patients initially complain of muscle weakness and muscle wasting in the small hand and later in the arm muscles. Also spasms in the legs and a decrease of the facial musculature characterize the amyotrophic lateral sclerosis. Symptoms can also be felt first in the feet and legs and only later spread to the arms and facial muscles.
Finally, the decline of facial expressions also belongs to the ALS disease process. It is caused by the disappearance of facial muscles and also hinders the ability to speak. The language becomes progressively slower and more washed-out (bulbar language), and swallowing can also be difficult as amyotrophic lateral sclerosis progresses.
In about 20 percent of sufferers with Lou Gehrig syndrome (ALS disease) first go down the nerve cells in a particular area of the brain. As a clinical picture fall first in a decrease in speech ability and dysphagia (bulbar paralysis). Only later will decrease muscle strength and volume of the extremities.
Other symptoms of amyotrophic lateral sclerosis may include involuntary movements, fasciculations (uncoordinated twitching of individual muscle bundles), lack of muscle reflexes, and frequent uncontrolled laughter and crying. At a later stage, all forms of ALS are characterized by severe convulsions and paralysis.
Amyotrophic lateral sclerosis: causes and risk factors
As nervous disease amyotrophic lateral sclerosis has long been known, however, the causes of the disease are still largely unexplained. Although a certain accumulation in pre-stressed families is observed, the majority of the cases still occur spontaneously. Every one hundred ALS sufferers have an inherited or newly occurring mutation in a particular gene that is important for cell metabolism. It interferes with the formation of an enzyme that scavenges oxygen free radicals in the cell. If it fails in amyotrophic lateral sclerosis, these radicals can cause considerable damage to nerve cells. This disturbs the transmission of the commands to the muscles – the result is muscle weakness and finally complete paralysis.
Amyotrophic lateral sclerosis: examinations and diagnosis
The ALS diagnosis is ensured by various medical examinations. Some of these are compulsory, further tests may be used by the attending physician to exclude other diseases with symptoms similar to those of amyotrophic lateral sclerosis as a disease (differential diagnosis).
Typical investigations in amyotrophic lateral sclerosis are:
- Tests of nerve functions (reflexes, muscle tension, sense of touch, bladder and bowel control)
- Test of mental and mental performance
- Electromyography and neurography (recording of electrical muscle activity)
- blood tests
- Test of lung function, possibly also a blood gas analysis
- Magnetic Resonance Imaging (to differentiate ALS from other nerve diseases)
- Determination of body weight and body mass index (BMI)
An ALS diagnosis can be further secured with the following tests:
- Muscle biopsy (structure of the muscle fibers)
- Test for dementia
- Magnetic Stimulation of Motor Brain Areas (Transcranial Magnetic Stimulation)
- Examination of blood and cerebrospinal fluid for various pathogens (Borrelia, HIV, Lues, etc.) or antibodies
- ENT examination (differential diagnosis: speech and swallowing disorders)
- Other imaging techniques (eg MRI of the brain and spinal cord)
- Blood serum tests for metabolic disorders
- Bone marrow biopsy
- Recording the nutritional status (independent predictor of life expectancy)
A DNA test for an altered SOD-1 gene is meaningful only because of the high cost if amyotrophic lateral sclerosis has already occurred in the affected person’s family. Crucial for the diagnosis of ALS is to exclude subforms such as primary lateral sclerosis or Kennedy’s syndrome as well as overlaps with other neurological diseases (eg Parkinson’s disease).
If a doctor has diagnosed ALS / Lou Gehrig’s syndrome, it may be useful to seek the opinion of another expert because of its immense importance.
Amyotrophic lateral sclerosis: treatment
Amyotrophic lateral sclerosis (ALS) is not curable. The goal of any treatment for ALS disease is therefore to enable those affected to live as long as possible, independently and with little pain. The best care is given to patients in a clinic that has an interdisciplinary team to treat amyotrophic lateral sclerosis. These include neurologists as well as gastrointestinal specialists (gastroenterologists), pulmonary specialists (pulmonologists), speech therapists (speech therapists), psychologists, physiotherapists and ergotherapists, dentists and dieticians.
The only recommended drug therapy for amyotrophic lateral sclerosis is currently the drug riluzole. Although it does not allow healing, it can protect nerve cells from further damage by inhibiting the messenger glutamate in the brain (glutamate antagonist). Riluzole is thus to be understood as a disease-delaying drug. The sooner the therapy starts, the more it diminishes the symptoms of amyotrophic lateral sclerosis. Life expectancy and quality of life increase considerably with the drug. Other drugs are currently being clinically tested and will be approved in the coming years if successful.
Amyotrophic lateral sclerosis: symptoms can be treated
Since amyotrophic lateral sclerosis is very individual, sufferers may suffer from very different symptoms that are treated individually. So many patients get breathing problems and suffer from shortness of breath because the respiratory muscles are no longer functioning properly. A respirator that can be used at home, as well as anti-mucilage drugs (mucolytics) can help. Preventive measures against pneumonia are often useful.
Problems with swallowing may require an artificial diet. This is done either via infusions (via the vein) or via a PEG tube, which is placed through the abdominal wall directly into the stomach. Increased salivation (hypersalivation) is not uncommon in ALS disease. Medications are used to treat the effects of the parasympathetic nervous system – such as amitriptyline, scopolamine or methionine.
Physiotherapy and occupational therapy can also help with amyotrophic lateral sclerosis. Symptoms such as uncontrolled muscle twitching or the risk of clots in the leg veins (thrombosis) can be reduced. Pain can often be treated well with strong analgesics (opioids) and other painkillers. For the treatment of depression and panic attacks psychotherapy with appropriate drugs (psychotropic drugs) is supported.
Hopes put sufferers on stem cell therapy. These still undifferentiated body cells are said to replace in part the underlying nerve cells. The cells are removed from the patient’s blood or bone marrow, grown and finally implanted in the damaged areas. A final assessment of this treatment is currently not possible despite some positive results. In Germany, this form of treatment is also not allowed.
Amyotrophic lateral sclerosis: disease course and prognosis
The life expectancy of people with amyotrophic lateral sclerosis (ALS) is difficult to predict due to the different course of the disease. The average life expectancy from diagnosis is three and a half years, but one third of the patients still lives five years or longer.
When ALS is diagnosed, physicians often advise early on to issue a living will and a power of attorney and to seek psychological support because of the often fulminant course of the disease. In addition to doctors, counseling and help are offered by ALS self-help groups.
If the diagnosis of amyotrophic lateral sclerosis is made early and treatment is initiated, a high quality of life is possible for many patients. Symptoms like depression and anxiety disorders are rare in ALS disease. If a good care is ensured in the home environment, it is only in the late phase of the Amyotrophic lateral sclerosis Inpatient treatment in the clinic needed.