ALS (Multiple Lateral Sclerosis) – Symptoms, Diagnosis, Treatment

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ALS, or amyotrophic lateral sclerosis, is a dangerous and still incurable disease of the nervous system, the existence of which many of us do not know. Poles heard more about it in January 2019, when, after a long struggle with the SLA, the popular TV and radio reader Janusz Kozioł, known for example from “Pulp Fiction” or “Naked Arms”, died. What is ALS, what is the disease and what is worth knowing about it?

ALS, ALS, Lou Gehrig’s disease – different names for the same disease

When looking for information on ALS, there are several different names for the disease. For the sake of order, it is worth briefly explaining where these differences in nomenclature come from. The general name of this disease entity in Polish is amyotrophic lateral sclerosis. Probably the most frequently encountered abbreviation SLA comes from the Latin term: sclerosis lateralis amyotrophica.

The term ALS is derived from the English language – it is an abbreviation of the name amyotrophic lateral sclerosis. In Anglo-Saxon countries, and especially in the USA, the name is more popular, however Lou Gehrig’s disease. It has to do with popular baseball player Henry Louis Gehrig, who died of amyotrophic lateral sclerosis in 1941.

Another name for ALS that can be found in the literature is Charcot’s disease – after the French scientist Jean-Martin Charcot (1825-1893), who, together with Alexis Joffrey, was the first to describe this disease.

ALS – disease characteristics and pathogenesis

Amyotrophic lateral sclerosis is a multi-system and multifactorial degenerative disease. This means that it gradually attacks various systems of the human body. The primary mechanism of ALS is damage to the peripheral and central motor neurons and the consequent progressive degeneration of the nerve fibers that supply the muscles.

Such damage results in paralysis of motor neurons, gradual impairment or atrophy of muscles, and paresis of various parts of the body. Patients with ALS, due to the constantly declining range of mobility, lose the ability to perform daily activities independently. Motor deficits and loss of motor functionality in ALS concern muscle structures in all parts of the body – not only in the limbs, but also, for example, in the respiratory organs or the digestive system.

Cause and pathogenesis of ALS still unknown – so far it has not been clearly established why some people suddenly develop amyotrophic lateral sclerosis. Specialists distinguish two basic types of SLA:

1. Occasional SLA (SALS) with several different clinical pictures, including progressive muscular atrophy, progressive bulbar palsy and pyramidal sclerosis, the causes of which have not been clearly identified to date;
2. Hereditary SLA (FALS), which accounts for only about 10% of all cases, and its clinical forms may include all SALS subtypes and usually show up earlier than in the case of SALS (it is worth remembering that probably not all possible genetic mutations in this area are known to us ).

As for the prevalence of this disease in the population, it is similar in different regions of the world – about 50 cases per million. ALS affects middle-aged and older people, but in 10% of cases, its symptoms appear before the age of 40, and in 5% of cases – even before the age of 80. The incidence increases in the following decades, up to the age of XNUMX. Interestingly, the disease affects men more than women.

Also read: New mutations responsible for amyotrophic lateral sclerosis have been discovered

ALS – symptoms

The first symptoms of ALS in most cases they appear between the ages of 40 and 60 and may initially appear insignificant and not clearly indicative of severe motor neuron damage.

In the first stages of ALS, the disease manifests itself with a slight weakening of muscle strength with accompanying tremors. Interestingly, these ailments usually affect the hands and are asymmetric in nature – the patient may, for example, observe weakness in the hand and shoulder muscles in one hand and problems with holding objects.

As the disease progresses, this state of muscle weakness continues and leads to limb paresis, spreading to other parts of the body.

To others common initial symptoms of ALS you can also include:

1. involuntary, painful contractions of individual muscles;
2. fasciculations, i.e. small contractions of groups of muscle fibers;
3. a discomforting sensation of ‘worms under the skin’ following these muscular problems;
4. persistent feeling of extreme tiredness.

However, it is worth remembering that the type and severity of the first symptoms of amyotrophic lateral sclerosis can be very individual. If the central nervous system is damaged in the initial stage of ALS, for example, a significant increase in muscle tone (spasticity) can be observed.

SLA usually progresses slowly over the years, maintaining its specific nature. Namely, it attacks only the motor nerves, while mental performance remains intact.

In the later stages of the disease symptoms such as:

1. dysphagia – an impairment of swallowing that prevents food intake;
2. dysphagia-related malnutrition and significant weight loss;
3. speech disorders and hypersalivation as a result of the progressive wasting of the muscles of the tongue;
4. severe respiratory distress – due to muscle failure in the airways, discharge often remains, which can lead to lung infections.

ALS is often accompanied by emotional problems such as anxiety, depression and insomnia. It is worth knowing that despite the progressive paralysis of the muscles patients with ALS do not lose feeling – neurons responsible for receiving sensory stimuli are not affected by the disease. This means that patients with this ailment are doomed to pain that occurs as a result of muscle cramps, spasticity or being in quite uncomfortable positions.

Lou Gehrig’s disease is characterized by progressive course – there is no remission, exacerbation or stabilization of the patient’s condition. The average disease duration is about 4 years, although about 20% of patients live with ALS for over 5 years.

Also check: Swallowing problems – how to feed a sick person to minimize the risk of aspiration

SLA – diagnostics

Disturbing symptoms that may indicate ALS should be consulted with a neurologist as soon as possible. It is worth remembering that a visit to this specialist requires a referral from another doctor (e.g. family doctor).

Based on the medical interview, the neurologist may order a number of diagnostic tests to confirm or rule out his suspicions.

SLA diagnostics usually requires tests such as:

1. Muscle electromyography (EMG) to see if motor neurons have been involved;
2. muscle structure electroneurography (ENG) to exclude diseases of the peripheral nerves and diseases of the neuromuscular junction;
3. transcranial magnetic stimulation (TMS) to assess the condition of the cortical-motor tract;
4. magnetic resonance imaging of the central nervous system (MRI);
5. blood test for the presence of the GM1 antibody.

It also turns out to be extremely important in the diagnosis of amyotrophic lateral sclerosis differential diagnosison the basis of which the risk of other diseases giving symptoms similar to ALS is excluded. The diseases with which it is necessary to differentiate this disease include, among others:

1. genetic disorders such as spastic paraplegia or adrenoleukodytrophy;
2. multiple sclerosis;
3. post-portfolio syndrome (post-paralysis syndrome);
4. Hirayama syndrome (asymmetric atrophy of the muscles of one limb);
5. myasthenia gravis;
6. overt and latent tetany;
7. pseudo-bulb syndrome;
8. vitamin B12 deficiency;
9. MMNCB, Multifocal Motor Neouropathy with Conduction Block;
10. Denny-Brown and Foley syndrome.

ALS – treatment

Due to the lack of a confirmed cause of ALS, no effective treatment or drug has yet been developed. Therapy used in patients with ALS therefore, it is symptomatic and focuses on alleviating the existing ailments and improving the patient’s quality of life.

Specialists emphasize that in the first stage of the disease it is extremely important to adapt to the patient’s abilities regular physical activityand also physiotherapy. They make it possible to strengthen the muscles weakened by the disease, and thus – to slow down the development of the disease and reduce the intensity of its symptoms. Systematic work with a physiotherapist who can select the appropriate set of exercises and treatments can help ALS patients maintain some independence and self-reliance in everyday life.

People with ALS often take it too cooperation with a speech therapistthanks to which they counteract the atrophy of the muscles of the tongue and esophagus, and also maintain the function of speech. As the disease progresses, it becomes necessary to implement other measures, such as adjusting the patient’s diet to his swallowing ability (often also feeding through a subcutaneous gastrostomy or gastric tube) or administering medications to reduce muscle spasticity.

Also read: Katowice among the world’s multiple sclerosis treatment centers

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