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

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

February 5, 2024

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 patients with amyotrophic lateral sclerosis or ALS, a disease that progressively damages the neurons that govern voluntary muscle movement.

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

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Neuromuscular diseases: basic definition

Neuromuscular diseases are understood as 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, 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 usually include the presence of hypotonia or muscle weakness of one or more parts of the body , the difficulty or inability to relax the muscles (the muscles remain contracted) which in turn can generate contractures and the possible presence of alterations in sensitivity and tactile perception. Nor is it uncommon for spasms to appear. In some diseases it may also affect the functioning of the respiratory system and even the heart, and the subject may need assisted breathing and life support.

This set of diseases and disorders they are usually progressive and neurodegenerative, causing a worsening of the 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 about them and their functioning is scarce. It must be borne in mind that the deficits implied by these disorders are of the motor type, maintaining cognitive functioning preserved unless there are other concomitant pathologies that produce it.

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Causes

Neuromuscular diseases can have very diverse causes , 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 consequence 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 known by the population and by the medical community, while others hardly have any information. Below 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 well-known personalities such as Stephen Hawking.

Disorder affects and attacks the subject's motor cells , causing its progressive degeneration and subsequent death. This generates that little by little all the motor muscles go atrophy until they prevent the movement of the voluntary musculature. In the long run, this disease ends up affecting the movement of the diaphragm and the thorax 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 deficit of some muscle fiber protein, affecting the striated muscle. The most common and known of all of them is Duchenne muscular dystrophy, in which Progressive and generalized muscle weakness and loss of strength occurs that usually begins in childhood and that ends up producing that the subject is able to walk and over time cardiorespiratory problems that may require assisted breathing.

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3. Congenital myopathies

Of generally genetic origin, this type of myopathies is detected shortly after birth and are characterized by alterations in the development of the muscle itself .

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

4. Congenital myotonias

The congenital myotonies are alterations in which it is observed a great difficulty to relax muscles and muscle tone after a contraction of these . Relaxing the muscles becomes complicated and slow. Exercise, 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 concrete situations such as exercise, consumption of rich foods, exposure to extreme temperatures or traumas (as in Westphal's disease). It may end up disappearing with time.

6. Progressive ossifying myositis

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

7. Metabolic myopathy

Disorder in which the problem is 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 involves, in addition to the damage generated by the symptomatology itself, a series of repercussions in the daily life of the patient whose severity may vary depending on the disorder and its effects. Keep in mind that most people with this type of disorders usually have cognitive abilities preserved , with which they are aware of their difficulties.

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

It is expected that a period of mourning will appear before the knowledge of the existence of the disease and the progressive loss of capabilities . In addition, it is relatively frequent that anxiety and / or depressive symptoms arise after the diagnosis and as the disease progresses or remains in 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.

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

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In search of a treatment

Most of the neuromuscular diseases do not have a curative treatment today. However, the symptoms can be worked on , so as 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 mechanisms and aids they may need to facilitate their lives. Also, in many cases a correct treatment can increase your life expectancy.

One of the treatments to be used is physiotherapy and neurorehabilitation . Efforts are thus made 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 musculature in order to prevent its degeneration. It is usually advisable to promote and improve the exercise of the respiratory muscles, since in a large part of the neuromuscular diseases according to the disorder this aspect can 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 apathy that It 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 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 both for the affected and their environment, requiring the maximum possible information and validation and response to the doubts, feelings and thoughts that everyone may have. It is essential to favor the social support of the affected person and to provide guidelines and specific resources to be taken into account.


Developing Treatment for Hereditary Neuromuscular Disease (February 2024).


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