Brief overview
- Symptoms: Muscle weakness and atrophy, as the disease progresses, signs of paralysis, convulsions, speech and swallowing disorders, difficulty breathing
- Therapy: The disease cannot be treated causally, but effective measures are available to alleviate the symptoms.
- Causes: The causes are not known to date. In some affected individuals, there is an enzyme defect that leads to the accumulation of free oxygen radicals.
- Prevention: Due to the unknown cause, the disease cannot be prevented.
What is Amyotrophic Lateral Sclerosis?
In most people, amyotrophic lateral sclerosis has no negative impact on mental abilities: Sensory perceptions, consciousness and thinking skills remain completely intact. Only about five percent suffer from memory loss. However, it is all the more stressful for many sufferers when, in the course of ALS, they are no longer able to cope with everyday life on their own.
The three forms of amyotrophic lateral sclerosis
Experts distinguish between three forms of amyotrophic lateral sclerosis:
- Sporadic form (about 90 to 95 percent of cases): Amyotrophic lateral sclerosis has no identifiable cause.
- Familial form (about five to ten percent of cases): Amyotrophic lateral sclerosis results from a change in genetic information (mutation). This can arise spontaneously or be inherited from one parent to the child.
What are the symptoms of ALS?
The clinical picture of ALS differs in some cases significantly among those affected. In addition, the symptoms of ALS change during the course of the disease.
Early symptoms of ALS
About 20 percent of those affected first experience a decline in speech and swallowing disorders (bulbar paralysis). Affected persons speak increasingly slowly and slurred (bulbar speech). Only later do muscle strength and volume in the extremities decrease.
Other symptoms of amyotrophic lateral sclerosis include involuntary movements and uncoordinated twitching of individual muscle bundles (fasciculations). Some people with ALS begin to laugh or cry uncontrollably.
In the later stages, all forms of ALS disease are characterized by paralysis. Many people lose a lot of weight (cachexia), and some sufferers experience limitations in their mental capacity. However, these are usually only mildly pronounced.
Does ALS cause pain?
As a result of muscle spasms and spasticity, ALS often causes pain during the course of the disease. The severity of this pain varies from person to person and often additionally restricts the ability to cope with stress and mobility. Those affected describe the pain as pulling, cramping or stabbing. In a recent study, people with ALS reported mainly
- Neck pain (40 percent)
- Pain in the shoulders (30 percent)
- Pain in the legs (40 percent)
How is ALS treated?
The disease amyotrophic lateral sclerosis (ALS) cannot be cured. The goal of treatment is therefore to enable those affected to live as long as possible, independently and with as few symptoms as possible.
The only causal therapy currently recommended for amyotrophic lateral sclerosis is the active substance riluzole. Although it does not allow a cure, it is able to protect the nerve cells from further damage. Riluzole delays the progression of ALS by several months. The earlier the therapy begins, the more it reduces symptoms. Life expectancy and quality of life increase considerably as a result of the drug. Other active ingredients are currently undergoing clinical trials.
Problems with swallowing often make artificial feeding necessary in the course of the disease. This is done either via infusions (via the vein) or via a so-called PEG tube, which leads through the abdominal wall directly into the stomach.
Physiotherapy and occupational therapy are also used for amyotrophic lateral sclerosis. They are intended to promote remaining abilities, alleviate symptoms such as uncontrolled muscle twitching and cramps, and reduce the risk of clot formation in the leg veins (thrombosis). Pain can usually be managed well with strong painkillers (for example, opioids). For severe cramps and spasticity, anticonvulsant and muscle relaxant medications are available.
Aids for ALS
In addition to therapeutic measures, there are various aids that offer support to ALS sufferers in different areas of life. They help to increase mobility and maintain independence for longer. Important aids are for example
- Walking stick, rollator or – in the later stages of the disease – a power wheelchair
- Sitting and standing aids
- Electrical control systems for windows, doors, lighting or heating, for example
- Nursing beds
- Toilet chair or toilet seat raiser
- Shower chair or bath lift
- Dressing and undressing aids
- Eating and drinking aids
Causes and risk factors
Amyotrophic lateral sclerosis has been known for a long time as a nervous disease, but the causes of the disease are still largely unknown. Although there may be an accumulation of cases of the disease in families with a history of the disease, the majority of ALS cases occur spontaneously.
Examinations and diagnosis
ALS diagnosis requires various medical examinations. Some of them are always necessary, other tests are only necessary in some cases to exclude diseases with similar symptoms (differential diagnosis).
Typical examinations when amyotrophic lateral sclerosis is suspected are:
- Tests of nerve functions (reflexes, muscle tension, sense of touch, bladder and bowel control)
- @ Tests of mental and intellectual performance
- Blood tests, especially to rule out other diseases
- Test of lung function, possibly also a blood gas analysis
- Magnetic resonance tomography (to differentiate ALS disease from other nerve diseases)
- Determination of body weight and body mass index (BMI)
An ALS diagnosis can also be further confirmed with the following tests:
- Muscle biopsy (structure of muscle fibers)
- Test for dementia
- Magnetic stimulation of the motor areas of the brain (transcranial magnetic stimulation)
- Examination of the throat, nose and ears (differential diagnosis: speech and swallowing disorders).
- Other imaging procedures (for example, magnetic resonance imaging of the brain and spinal cord)
- Examination of the blood for metabolic disorders
- Removal of bone marrow (bone marrow biopsy)
A DNA test for an altered SOD-1 gene is particularly useful in young patients with rapid disease progression, especially to rule out other diseases with certainty.
Course of the disease and prognosis
A cure is still not possible for ALS. The life expectancy of people with amyotrophic lateral sclerosis (ALS) can hardly be predicted due to the varying course of the disease. Most of those affected die within two to five years after diagnosis, the cause often being weakness of the respiratory muscles (respiratory insufficiency). However, about ten percent of those affected survive significantly longer, in some cases for more than ten years.
If amyotrophic lateral sclerosis is diagnosed at an early stage so that treatment is possible immediately, many patients have a fairly high quality of life. If good care is provided in the home environment, sufferers do not require inpatient treatment in a clinic until the late phase of amyotrophic lateral sclerosis.
Prevention
Since the cause of the disease is unknown, it is not possible to specifically prevent ALS.
