Neuromuscular diseases: what they are, and examples

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

This condition is part of the so-called neuromuscular diseases, which we will talk about throughout this article.

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Neuromuscular diseases: basic definition

Neuromuscular diseases are understood to be an extensive group of disorders characterized by the presence of motor alterations generated by injuries or other alterations of neuronal origin. This type of disease occurs due to problems in the peripheral nervous system, be it 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 they usually include the presence of hypotonia or muscle weakness in one or more parts of the body

, the difficulty or impossibility of relaxing the musculature (the muscles remain contracted) that in turn It can sometimes cause contractures and the possible presence of alterations in sensitivity and perception. tactile. It is also not uncommon for spasms to appear. In some diseases, it can also affect the functioning of the respiratory system and even the heart, the subject may require assisted respiration and life support.

This set of diseases and disorders are generally progressive and neurodegenerative, causing a worsening of symptoms over time. They usually generate great difficulties in daily life and some type of disability and dependency.

In general, these are diseases considered rare diseases, and in many cases the existing knowledge regarding them and their operation is scarce. It must be taken into account that the deficits that these disorders entail are motor-type, keeping preserved cognitive functioning unless there are other concomitant pathologies than the produce.

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Causes

Neuromuscular diseases can have many different 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 throughout life (for example diabetes, HIV infection, neurosyphilis ...). They can also appear as a result of the consumption of certain substances 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 by the medical community, while there is little information about others. Here 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 of being suffered by such well-known personalities as Stephen Hawking.

Disorder affects and attacks the subject's motor cells, causing its degeneration and subsequent death progressively. This causes that little by little all the motor muscles atrophy until preventing the movement of the voluntary muscles. In the long run, this disease ends up affecting the movement of the diaphragm and the chest muscles, 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 deficiency of some protein in the muscle fiber, affecting the striated muscle. The most common and well-known of them all is Duchenne muscular dystrophy, in which there is a progressive and generalized weakness and loss of muscle strength which usually begins in childhood and ends up causing the subject to be able to walk and over time cardiorespiratory problems that may require assisted respiration.

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3. Congenital myopathies

Of generally genetic origin, this type of myopathies is detected shortly after birth and is characterized by disturbances 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 hypotonia generalized in different parts of the body), or become fatal such as congenital myotubular myopathy (in which there is insufficiency respiratory).

4. Congenital myotonias

Congenital myotonias are alterations in which it is observed great difficulty in relaxing muscles and muscle tone after a muscle contraction. Relaxing the muscles becomes complicated and time consuming. Exercising, eating or traveling becomes complex. The causes are mainly genetic.

5. Westphal disease

A group of disorders characterized by the presence of episodes of paralysis in more or less specific situations such as exercising, consuming rich foods, exposure to extreme temperatures or trauma (as occurs in Westphal disease). It can end up disappearing over time.

6. Myositis ossificans progressiva

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

7. Metabolic myopathy

Disorder in which the problem is found in the difficulty or inability of the muscles to obtain energy.

8. Myasthenia gravis

It is a neuromuscular disease in which the immune system attacks the neuromuscular junction, reacting against the postsynaptic membrane.

Consequences in daily life

The suffering of a neuromuscular disease supposes, in addition to the damage generated by the symptoms itself, a series of repercussions in the daily life of the patient whose severity can vary depending on the disorder and the effects that have. It should be borne in mind that most people with this type of disorder usually has preserved cognitive abilities, with which they are aware of their difficulties.

One of the most commented on by many patients is the loss of autonomy and increased difficulty to do things that (except in congenital diseases) previously they could have done without difficulty. In many cases, neuromuscular diseases end up making the patient require external help, having a variable level of dependence.

It is expected that a mourning period before the knowledge of the existence of the disease and the progressive loss of capacities. In addition, it is relatively common for anxiety and / or depressive symptoms to appear after diagnosis and as the disease progresses or is maintained over time. In addition, the relatively little knowledge regarding this type of syndromes means that many patients do not know what to expect, generating a deep sense of uncertainty regarding what they are to come.

Your social and work life can vary greatly affected, both due to the difficulties generated by the disorder itself and its consequences on an emotional level, which can make the subject want to isolate themselves from the environment.

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In search of a treatment

Most of the neuromuscular diseases today do not have a curative treatment. However, the symptoms can be worked on, so as to optimize the level and quality of life of people who suffer from these problems, promote an increase in their level of autonomy and independence, enhance their resources and provide mechanisms and assistance that they may need to facilitate their lifetime. Likewise, in many cases 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 as possible and with the maximum possible level of optimization, as well as to strengthen the muscles in order to prevent their degeneration. It is usually advisable to promote and improve the exercise of the respiratory muscles, since to a large extent of neuromuscular diseases depending on the disorder, this aspect can be more difficult for the patient. patient.

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

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

Psychoeducation is essential both for the affected person and for their environment, requiring as much information as possible and validation and response to doubts, feelings and thoughts that everyone may have. It is essential to favor the social support of the affected person and provide specific guidelines and resources to take into account.