Amyotrophic lateral sclerosis (ALS): symptoms, prognosis

Amyotrophic lateral sclerosis (ALS): symptoms, prognosis

Amyotrophic lateral sclerosis (ALS) is a chronic degenerative disease of the central nervous system. The patients suffer from progressive muscle paralysis. They are dependent on a wheelchair at an early age, later they also have difficulties swallowing, speaking or breathing. In many cases ALS leads to death within a few years. But there are also people like the astrophysicist Steven Hawking, who lived with the disease for decades. Read more about the signs and treatment of amyotrophic lateral sclerosis here.

Amyotrophic lateral sclerosis: Description

Amyotrophic lateral sclerosis (also called ALS, myatrophic lateral sclerosis, Charcot’s disease or Lou Gehrig’s syndrome) has been known as a nervous disease since the middle of the 19th century. In comparison to other neurodegenerative diseases, it occurs relatively rarely. Experts estimate that approximately two out of every 100,000 people suffer from amyotrophic lateral sclerosis every year. The number of new cases of amyotrophic lateral sclerosis is not very high.

In most cases, amyotrophic lateral sclerosis occurs between the ages of 50 and 70. It usually begins with muscle weakness and atrophy in the extremities. In the later course of the disease, atrophy of the facial muscles occurs. This can be accompanied by fronto-temporal dementia. Amyotrophic lateral sclerosis also includes involuntary cramps in the extremities, so-called spasticity.

The three forms of amyotrophic lateral sclerosis

If amyotrophic lateral sclerosis is diagnosed during the medical examination, the specialist distinguishes between three forms:

  1. Sporadic form: Amyotrophic lateral sclerosis has no identifiable cause.
  2. Family form: Amyotrophic lateral sclerosis is caused by a change in the genetic information on a chromosome (genetic mutation), which is passed on from parents to their children.
  3. Endemic form: For reasons as yet unknown, 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) that are responsible for transmitting commands to the muscles gradually die in the course of the disease – a process that is no longer reversible. Thus, the commands from the brain and spinal cord become weaker and weaker and are later transmitted to the muscles. Amyotrophic lateral sclerosis therefore first manifests itself through muscle weakness, later paralysis.

In most patients, amyotrophic lateral sclerosis has no negative effects on mental abilities: Sensory perceptions, consciousness and thinking ability remain completely intact. Only about five percent suffer from memory loss. This makes it all the more tragic for the affected persons when, in the course of the ALS disease, they are no longer able to manage their everyday life on their own. Amyotrophic lateral sclerosis cannot be cured and those affected usually die of the consequences within only a few years.

Amyotrophic lateral sclerosis: symptoms

The ALS disease pattern can differ significantly from individual to individual. 25 percent of those affected initially complain of muscle weakness and muscle atrophy in the small hand muscles and later in the arm muscles. Amyotrophic lateral sclerosis is also characterized by cramps in the legs and a decline in facial muscles. Symptoms can also initially appear in the feet and legs and only later spread to the arms and facial muscles.

Finally, the decrease in facial expressions is also part of the ALS disease process. It is caused by the loss of facial muscles and also hinders the ability to speak. The language becomes increasingly slow and blurred (bulbar language), and swallowing can also be difficult if amyotrophic lateral sclerosis continues to progress.

In about 20 percent of those affected by Lou Gehrig’s syndrome (ALS disease), the nerve cells in a specific area of the brain first die. The first symptoms are a decrease in speech ability and swallowing disorders (bulbar paralysis). Only later do muscle strength and volume in the extremities decrease.

Further symptoms of amyotrophic lateral sclerosis may include involuntary movements, fasciculations (uncoordinated twitches of individual muscle bundles), lack of muscle reflexes and frequent uncontrolled laughing and crying. In the later stages, all forms of ALS disease are characterized by severe cramps and paralysis.

Amyotrophic lateral sclerosis: causes and risk factors

Amyotrophic lateral sclerosis has long been known as a nervous disease, but the causes of the disease are still largely unexplained. Although a certain accumulation is observed in families with a history of disease, the majority of cases occur spontaneously. Every hundredth person suffering from ALS has an inherited or newly occurring mutation in a specific gene that is important for cell metabolism. It interferes with the formation of an enzyme that intercepts free oxygen radicals in the cell. If it fails in amyotrophic lateral sclerosis, these radicals can cause considerable damage to nerve cells. This disrupts the transmission of commands to the muscles – the result is muscle weakness and ultimately complete paralysis.

Amyotrophic lateral sclerosis: examinations and diagnosis

The ALS diagnosis is confirmed by various medical examinations. Some of them are mandatory, further tests can be used by the attending physician to exclude other diseases with similar symptoms as those of amyotrophic lateral sclerosis as a disease (differential diagnosis).

Typical examinations in amyotrophic lateral sclerosis are

  • Tests of nerve functions (reflexes, muscle tension, sense of touch, bladder and bowel control)
  • Test of mental and psychological 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 distinguish ALS disease from other nervous diseases)
  • Determination of body weight and body mass index (BMI)

An ALS diagnosis can also be further substantiated with the following tests:

  • Muscle biopsy (structure of the muscle fibres)
  • Test for dementia
  • Magnetic stimulation of the motor brain areas (Transcranial magnetic stimulation)
  • Testing of blood and cerebrospinal fluid for various pathogens (Borrelia, HIV, syphilis, etc.) or antibodies
  • ENT examination (differential diagnosis: speech and swallowing disorders)
  • Other imaging procedures (e.g. magnetic resonance tomography of the brain and spinal cord)
  • Testing of blood serum for metabolic disorders
  • Bone marrow biopsy
  • Assessment of nutritional status (independent predictor of life expectancy)

Due to the high costs involved, a DNA test for an altered SOD-1 gene is only useful if amyotrophic lateral sclerosis has already occurred in the family of the person affected. It is crucial for the diagnosis of ALS to exclude subforms such as primary lateral sclerosis or Kennedy syndrome as well as overlaps with other neurological diseases (e.g. Parkinson’s disease).

If a doctor has diagnosed ALS /Lou-Gehrig syndrome, it may be useful to obtain the opinion of another expert due to the immense importance of the diagnosis.

Amyotrophic lateral sclerosis: treatment

Amyotrophic lateral sclerosis (ALS) is not curable. The aim of any treatment of ALS disease is therefore to enable those affected to live as long, independently and with as little discomfort as possible. Patients receive the best care in a clinic that has an interdisciplinary team available for the treatment of amyotrophic lateral sclerosis. In addition to neurologists, these include gastrointestinal specialists (gastroenterologists), lung specialists (pulmonologists), speech therapists (speech therapists), psychologists, physiotherapists and occupational therapists, dentists and dietitians.

Riluzole is currently the only recommended drug therapy for amyotrophic lateral sclerosis. Although it does not allow healing, it can protect the nerve cells from further damage by inhibiting the messenger substance glutamate in the brain (glutamate antagonist). Riluzole is therefore to be understood as a drug that delays the progression of disease. The earlier the therapy begins, the more it reduces the symptoms of amyotrophic lateral sclerosis. Life expectancy and quality of life increase considerably due to the drug. Further active ingredients are currently undergoing clinical trials and, if successful, will be approved in the next few years.

Amyotrophic lateral sclerosis: symptoms can be treated

Since amyotrophic lateral sclerosis is a very individual disease, affected persons can suffer from very different symptoms, which are treated individually. As a result, many patients experience respiratory problems and suffer from shortness of breath because the respiratory muscles no longer function adequately. A ventilator, which can be used at home, and medication against mucus (mucolytics) can then help. Preventive measures against pneumonia are also often useful.

Problems with swallowing can make artificial feeding necessary. This is done either via infusions (via the vein) or via a PEG probe, which is placed directly into the stomach through the abdominal wall. Increased salivation (hypersalivation) is also not uncommon in the course of ALS. For treatment, drugs are used that dampen the influence 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 clot formation in the leg veins (thrombosis) can be reduced in this way. Pain can often be controlled well with strong painkillers (opioids) and other painkillers. For the treatment of depression and panic attacks, psychotherapy is supported with suitable medication (psychotropic drugs).

Patients have high hopes for stem cell therapy. These still undifferentiated body cells are supposed to partially replace decayed nerve cells. The cells are taken from the patient’s blood or bone marrow, cultured and finally implanted into the damaged areas. Despite some positive results, a final assessment of this treatment is not yet possible. In addition, this form of treatment is not approved in Germany.

Amyotrophic lateral sclerosis: course of disease 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 the time of diagnosis is three and a half years, but one third of patients live for five years or more.

If the ALS disease is diagnosed, doctors usually 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. Advice and help is offered not only by doctors but also by ALS self-help groups.

If amyotrophic lateral sclerosis is diagnosed early and treatment is initiated immediately, many patients can enjoy a fairly high quality of life. Symptoms such as depression and anxiety disorders are rare in ALS disease. If good care is ensured in the home environment, inpatient treatment in the clinic is only necessary in the late phase of amyotrophic lateral sclerosis.

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