Neuromuscular Diseases: What They Are, How They Are Treated, And Examples
Relatively few years ago, specifically in 2014, what is known as the 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, which we are going to talk about throughout this article
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 These types of diseases occur due to problems in the peripheral nervous system, whether at the neuromuscular junction, the spinal cord or the peripheral nerve itself.
The specific symptoms will depend on the disorder itself, but They generally include the presence of 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 generate 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 cardiac system, and the subject may require assisted breathing and life support.
This set of diseases and disorders They are generally progressive and neurodegenerative, causing 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 functioning is scarce. It must be taken into account that the deficits caused by these disorders are motor-related, with cognitive functioning maintained unless there are other concomitant pathologies that cause it.
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 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 the medical community, while for others there is hardly 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 that it is 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 all the motor muscles to gradually atrophy until the movement of the voluntary muscles is prevented. In the long run, this disease ends up affecting the movement of the diaphragm and chest muscles, making it necessary to use 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 muscle fiber protein, affecting the striated muscle. The most common and well-known of all of them is Duchenne muscular dystrophy, in which progressive and generalized weakness and loss of muscle strength occurs 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 breathing.
3. Congenital myopathies
Generally genetic in origin, this type of myopathies is detected shortly after birth and is characterized by alterations in the development of the muscle itself
Depending on the disorder, it may not cause progressive worsening (as occurs in congenital nemaline myopathy, in which there is generalized hypotonia in different parts of the body), or it may be fatal, such as congenital myotubular myopathy (in which there is respiratory failure).
Congenital myotonias are alterations in which great difficulty relaxing muscles and muscle tone after a muscle contraction Relaxing the muscles becomes complicated and slow. Exercising, eating or moving around 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, eating rich foods, exposure to extreme temperatures or trauma (as occurs in Westphal disease). It may 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 greatly limiting movement.
7. Metabolic myopathy
Disorder in which The problem lies 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
Suffering from a neuromuscular disease entails, in addition to the damage generated by the symptoms themselves, a series of repercussions on the patient’s daily life, the severity of which may vary depending on the disorder and the effects it has. It must be taken into account that the majority of people with this type of disorders usually has preserved cognitive abilities so they are aware of their difficulties.
One of the most commented on by many patients is the loss of autonomy and increased difficulty in doing things that (except in congenital diseases) they could have previously done without difficulty. In many cases, neuromuscular diseases end up causing the patient to require external help, having a variable level of dependency.
It is expected that a period of mourning will appear upon learning of the existence of the disease and the progressive loss of capabilities In addition, it is relatively common for anxious and/or depressive symptoms to arise after diagnosis and as the disease progresses or persists 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 feeling of uncertainty regarding what is to come.
Your social and work life can be 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.
In search of a treatment
Most neuromuscular diseases do not currently have a curative treatment. However, the symptoms can be treated, 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 aid that they may need to make their lives easier. Likewise, in many cases correct treatment can increase your life expectancy.
One of the treatments to use is physiotherapy and neurorehabilitation The aim is to promote and maintain motor functions for as long as possible and with the highest level of optimization possible, as well as to strengthen the muscles in order to prevent their degeneration. It is usually advisable to promote and improve exercise of the respiratory muscles, given that in most 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 those affected by these diseases to be able to move with 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 locomotion or communication mechanisms.
Through psychological therapy it is possible to treat psychological 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 their environment, requiring the maximum possible information and the validation and response to the doubts, sensations and thoughts that everyone may have. It is essential to promote social support for the affected person and provide specific guidelines and resources to take into account.
