Neuromuscular diseases: what they are, how they are treated, and examples.

This type of medical condition often leads to steadily worsening neurodegenerative processes.

Relatively few years ago, specifically in 2014, the so-called Ice Bucket Challange became popular. It was a solidarity campaign aimed at seeking support for sufferers of amyotrophic lateral sclerosis or ALS, a disease that progressively damages the neurons that govern voluntary Muscle movement.

This condition is one of the so-called neuromuscular neuromuscular diseases, which we will discuss in this article..

Neuromuscular diseases: basic definition

Neuromuscular diseases are understood to be a large group of disorders characterized by the presence of motor alterations generated by lesions or other alterations of neuronal origin.. This type of disease occurs due to problems in the peripheral nervous system, either at the level of the neuromuscular junction, the spinal cord or the peripheral nerve itself.

The specific symptoms will depend on the disorder itself, but generally include the presence of usually include the presence of hypotonia or muscle weakness in one or more parts of the body, difficulty or impossibility to relax or relax in one or more parts of the body, difficulty or impossibility to relax in one or more parts of the body.The symptoms may include hypotonia or muscle weakness in one or more parts of the body, the difficulty or impossibility of relaxing the muscles (the muscles remain contracted), which in turn can lead to contractures, and the possible presence of alterations in sensitivity and tactile perception. It is not uncommon for spasms to appear. In some diseases it can also affect the functioning of the respiratory system and even the cardiac system, and the subject may require assisted respiration and life support.

This group of diseases and disorders are usually progressive and neurodegenerative, causing a worsening of symptoms over time. over time. They usually generate great difficulties in daily life and some kind of disability and dependence.

In general, these diseases are considered rare diseases, and in many cases the existing knowledge about them and their functioning is scarce. It should be borne in mind that the deficits that these disorders entail are of a motor nature, with cognitive functioning being preserved unless there are other concomitant pathologies that produce it.

Causes

Neuromuscular diseases can have very diverse causes.and both genetic and environmental factors may be involved.

A large proportion of these disorders are caused by genetic factors, both at the level of genetic inheritance and at the level of de novo mutations, and appear as a primary disorder.

However, we can also find many cases in which the neuromuscular disorder is secondary to another medical condition, due to the existence of diseases or infections acquired during life (e.g. diabetes, HIV infection, neurosyphilis...). They can also occur as a result of the consumption of certain substances or reactions to medications. or reactions to medications.

Some neuromuscular diseases

Within the category of neuromuscular diseases we can find a large number of disorders, exceeding 150. Some of them are relatively well known by the population and the medical community, while for others there is hardly any information. The following are some known neuromuscular disorders.

1. Amyotrophic Lateral Sclerosis (ALS)

This disease, which we have already mentioned in the introduction, has become relatively well known due to campaigns such as the Ice Bucket Challenge or the fact that it is suffered by well-known personalities such as Stephen Hawking.

The disorder affects and attacks the motor cells of the subjectcausing their degeneration and subsequent death in a progressive manner. This gradually causes all the motor muscles to atrophy until the movement of the voluntary musculature is prevented. In the long run, this disease ends up affecting the movement of the diaphragm and the muscles of the thorax, requiring the use of artificial respiration.

2. Duchenne muscular dystrophy

Within this group of diseases we find those that are generally due to the absence or deficit of some protein of the muscle fiber, affecting the striated muscle. The most common and best known of these is Duchenne muscular dystrophy, in which a progressive and generalized weakness and loss of muscle strength occurs. progressive and generalized weakness and loss of muscle strength, which usually begins in childhood and which usually begins in childhood and ends up causing the subject to be able to walk and eventually cardiorespiratory problems that may require assisted breathing.

3. Congenital myopathies

Generally genetic in origin, this type of myopathy is detected shortly after birth and is characterized by alterations in the development of the muscle itself.

Depending on the disorder, it may not produce a progressive worsening (as occurs in nemaline congenital myopathy, in which there is generalized hypotonia in different parts of the body), or become fatal as in myotubular congenital myopathy (in which there is respiratory failure).

4. Myotonia congenita

Myotonias congenita are disorders in which there is a great difficulty in relaxing the muscles. a great difficulty to relax the muscles and muscle tone after muscle contraction.. Relaxing the muscles becomes complicated and slow. Exercising, eating or moving around becomes complex. The causes are mainly genetic.

5. Westphal's disease

A group of disorders characterized by the presence of episodes of paralysis in more or less episodes of paralysis in more or less specific situations, such as exercise such as exercise, consumption of rich foods, exposure to extreme temperatures or trauma (as in Westphal's disease). It may eventually disappear.

6. Myositis ossificans progressiva

Also known as stone man's disease, this disorder is characterized by the progressive ossification of muscle and tissues such as tendons and ligamentswhich ends up limiting movement to a great extent.

7. Metabolic myopathy

Disorder in which the problem lies in the difficulty or impossibility of the muscles to obtain energy..

8. Myasthenia gravis

This is a neuromuscular disease in which the immune system attacks the neuromuscular junctionreacting against the postsynaptic membrane.

Consequences in daily life

The suffering from a neuromuscular disease involves, in addition to the damage generated by the symptomatology itself, a series of repercussions on the patient's daily life whose severity may vary depending on the disorder and the effects it has. It should be noted that the majority of people with this type of disorder usually have preserved cognitive usually have cognitive skills preserved, so they are aware of their difficulties.and therefore they are aware of their difficulties.

One of the most frequently mentioned by many patients is the loss of autonomy and the increased difficulty in doing things that (except in congenital diseases) they could previously have done without difficulty. In many cases, neuromuscular diseases end up making the patient need external help, with a variable level of dependence.

It is to be expected that a period of bereavement will appear with the knowledge of the existence of the disease and the progressive loss of abilities.. In addition, it is relatively common for anxious and/or depressive symptoms to appear after diagnosis and as the disease progresses or is maintained over time. In addition, the relatively little knowledge about this type of syndromes means that many patients do not know what to expect, generating a deep sense of uncertainty about what is to come.

Their social and work life can be greatly affected, both due to the difficulties generated by the disorder itself and to its consequences at the emotional level, which can make the subject want to be more involved in their social and work life.which can make the subject want to isolate himself from the environment.

In search of a treatment

Most neuromuscular diseases do not have a curative treatment to date. However, the symptoms can be treatedThe aim is to optimize the level and quality of life of people suffering from these problems, promote an increase in their level of autonomy and independence, enhance their resources and provide the mechanisms and aids they may need to facilitate their lives. Likewise, in many cases a correct treatment can increase their life expectancy.

One of the treatments to be used is physiotherapy and neurorehabilitation.. The aim is to promote and maintain motor functions for as long and as optimally as possible, as well as to strengthen the musculature in order to prevent degeneration. It is usually advisable to promote and improve the exercise of the respiratory muscles, since in most neuromuscular diseases, depending on the disorder, this aspect may be more difficult for the patient.

The provision of adapted aids such as wheelchairs and computer communicators can allow those affected by these diseases to be able to move with greater or lesser freedom and autonomy, allowing them to maintain their relationship and participation in the social environment and avoiding the apathy and abulia that could arise in the absence of locomotion or communication mechanisms.

From psychological therapy it is possible to treat psychic problems derived from the experience of the disease, such as symptoms of depression, anxiety and depression.such as depressive symptomatology and aspects such as cognitive distortions, beliefs derived from the suffering of the disease and the expression of fears, doubts and insecurities.

Psychoeducation is fundamental for both the affected person and his/her environment, requiring as much information as possible and the validation and response to the doubts, sensations and thoughts that everyone may have. It is essential to promote the social support of the affected person and to provide specific guidelines and resources to be taken into account.