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

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

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

    Neuromuscular diseases: basic definition

    Neuromuscular diseases are understood to mean a large group of disorders characterized by the presence of motor alterations generated by injury or other alterations of neuronal origin. These types of diseases arise 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, however they usually include the presence of hypotonia or muscle weakness in one or more parts of the body, Difficulty or inability to relax muscles (muscles remain contracted) which in turn can lead to contractures and the possible presence of alterations in sensitivity and tactile perception. 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, and the subject requires respiratory assistance and life support.

    This set of diseases and disorders they are generally progressive and neurodegenerative, leading to worsening of the symptoms overtime. They usually cause great difficulty in daily life and some kind of handicap and addiction.

    These are generally diseases considered to be rare diseases and in many cases, the existing knowledge about them and how they work is scarce. It should be borne in mind that the deficits caused by these disorders are of the motor type, maintaining cognitive functioning preserved unless there are other concomitant pathologies that produce it.


      Neuromuscular diseases can have many different causesGenetic and environmental factors may be involved.

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

      However, one 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 (e.g. diabetes, HIV infection , neurosyphilis). …). They can also appear as a result of the consumption of certain substances or drug reactions.

      Certain neuromuscular diseases

      In the category of neuromuscular diseases, one can find a large number of disorders, exceeding 150. Some of them are relatively well known to the population and the medical community, while others have little information. Here are some known neuromuscular disorders.

      1. Amyotrophic lateral sclerosis (ALS)

      This disease, which we 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 such well-known figures as Stephen Hawking.

      the disorder affects and attacks the subject’s motor cells, Causing its degeneration and the death that gradually ensues. This causes the progressive atrophy of all motor muscles to prevent movement of voluntary muscles. In the long term, this disease ends up affecting the movement of the diaphragm and chest muscles, and the use of artificial respiration is necessary.

      2. Duchenne muscular dystrophy

      In this group of diseases we find those that are usually due to the absence or deficiency of certain proteins of the muscle fibers, affecting the striated muscle. The most common and well-known of all is Duchenne muscular dystrophy, in which there is progressive and generalized weakness and loss of muscle strength which usually begins in childhood and eventually causes the subject to walk and eventually to cardiorespiratory problems that may require assisted breathing.

        3. Congenital myopathies

        Usually 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 progressive worsening (as in congenital non-malignant myopathy, in which there is generalized hypotonia in different parts of the body), or it may become fatal as congenital myotubular myopathy (in which there is respiratory failure).

        4.congenital myotonia

        Congenital myotonia are alterations in which it is observed great difficulty in relaxing muscles and muscle tone after contraction of these. Relaxation of the muscles becomes complicated and slow. Exercising, eating or moving 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 specific situations such as exercise, consumption of rich foods, exposure to extreme temperatures, or trauma (as in Westphal’s disease). It may eventually go away over time.

        6. Progressive myositis ossificans

        Also known as stone man disease, this disease is characterized by progressive ossification of muscles and tissues such as tendons and ligaments, Which ends up considerably limiting the movement.

        7. Metabolic myopathy

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

        8. Severe 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

        Suffering from a neuromuscular disease has, in addition to the damage caused by the same symptoms, a number of repercussions on the daily life of the patient, the severity of which may vary depending on the disease and its effects. It should be noted that most people with this type of disorder generally retained cognitive abilitiesThey are therefore aware of their difficulties.

        One of the issues most discussed by many patients is the loss of autonomy and the increased difficulty in doing things that (except in congenital diseases) could previously have been done without difficulty. In many cases, neuromuscular diseases end up causing the patient to need outside help, with varying levels of dependency.

        It is expected that a period of mourning will appear before knowledge of the existence of the disease and gradual loss of capacity. In addition, it is relatively common for anxiety and / or depressive symptoms to occur after diagnosis and as the disease progresses or persists over time. In addition, the relatively limited knowledge about these types of syndromes means that many patients do not know what to expect, which generates a deep sense of uncertainty about what will happen.

        Your social and professional life can vary considerably, both because of the difficulties generated by the disorder itself and its emotional consequences, Which can make the subject want to isolate himself from the environment.

          In search of treatment

          Most neuromuscular diseases have no cure today. However, the symptoms can be resolvedIn order to optimize the level and quality of life of people suffering from these problems, promote an increase in their level of autonomy and independence, develop their resources and provide them with the mechanisms and assistance they can need to make their life easier. Also, in many cases, the correct treatment can increase your life expectancy.

          One of the treatments to use is physiotherapy and neuroreeducation. Is In this way, it seeks to promote and maintain motor functions as long as possible and with the maximum possible optimization, as well as to strengthen the muscles in order to avoid their degeneration. It is generally advisable to promote and improve exercise of the respiratory muscles, since in many neuromuscular diseases depending on the disorder this aspect can be more difficult for the patient.

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

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

          Psychoeducation is the key both for those affected and for their environment, requiring the maximum amount of information and validation and response to any doubts, feelings and thoughts that anyone may have. It is essential to encourage social support for those affected and to provide specific guidelines and resources to consider.

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