Relatively few years ago, in 2014, the so-called Ice Bucket Challange became popular. This was a solidarity campaign aimed at seeking support for people suffering from 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 will discuss throughout this article .

Neuromuscular diseases: basic definition

Neuromuscular diseases are understood as a large group of disorders characterized by the presence of motor alterations generated by injuries or other alterations of neuronal origin . This type of disease is produced due to problems in the peripheral nervous system, whether 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 several parts of the body , the difficulty or impossibility of relaxing the muscles (the muscles remain contracted) which in turn may generate contractures and the possible presence of alterations in tactile sensitivity and 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 may need assisted breathing and life support.

This group of diseases and disorders are generally 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.

These diseases are generally considered to be rare diseases, and in many cases there is little knowledge about them and how they work. It must be taken into account that the deficits that these disorders entail are of a motor type, and cognitive functioning is preserved unless there are other concomitant pathologies that produce it.


Neuromuscular diseases can have many different causes , and both genetic and environmental factors can be involved.

A large proportion of these disorders are caused by genetic factors, both at the level of heredity and at the level of de novo mutations, and they 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 medication.

Some neuromuscular diseases

Within the category of neuromuscular diseases we can find a great number of disorders, exceeding 150. Some of them are relatively well known by the population and the medical community, while for others we 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 that it has been suffered by well-known personalities such as Stephen Hawking.

The disorder affects and attacks the subject’s motor cells , causing their degeneration and subsequent death progressively. This causes all the motor muscles to gradually atrophy until they prevent 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 deficit of some muscle fiber protein, affecting the striated muscle. The most common and well known of these is Duchenne muscular dystrophy, in which there is a progressive and generalized weakness and loss of muscle strength that usually begins in childhood and ends up making the subject able to walk and eventually causing cardiorespiratory problems that may require assisted breathing.

3. Congenital myopathies

Of generally genetic 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 progressively worsen (as in nemaline congenital myopathy, where there is widespread hypotonia in different parts of the body), or become fatal like myotubular congenital myopathy (where there is respiratory failure).

4. Congenital myotonia

Congenital myotonies are alterations in which it is observed a great difficulty to relax the muscles and muscle tone after a contraction of them . 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 specific situations such as exercise, consumption of rich foods, exposure to extreme temperatures or trauma (as occurs in Westphal’s disease). It may eventually disappear over 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 movement.

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 junction , reacting against the post-synaptic membrane.

Consequences in daily life

The suffering of a neuromuscular disease implies, in addition to the damage generated by the symptoms themselves, a series of repercussions in the patient’s daily life whose severity can vary depending on the disorder and the effects it has. It should be taken into account that most people with this type of disorder tend to have preserved cognitive abilities , and are therefore 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) they could have done previously without difficulty. In many cases, neuromuscular diseases end up making the patient need external help, having a variable level of dependence.

A period of mourning can be expected to appear upon knowledge of the existence of the disease and the progressive loss of capacities . In addition, it is relatively frequent for anxious and/or depressive symptoms to appear after the diagnosis and as the disease advances 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 lies ahead.

Their social and working life can vary greatly, both due to the difficulties generated by the disorder itself and to its consequences on an emotional level , which can make the subject want to isolate himself from his surroundings.

In search of a treatment

Most neuromuscular diseases have no curative treatment today. However, it is possible to work on the symptoms , in such a way 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, strengthen their resources and provide mechanisms and aids that may be needed to facilitate their lives. Also, 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 the motor functions as long as possible and with the highest 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, given that 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 computerised communicators can allow those affected by these diseases to be able to move around more or less freely and autonomously, enabling 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 psychological problems derived from the experience of the illness , such as depressive symptoms and aspects such as cognitive distortions, beliefs derived from the illness and the expression of fears, doubts and insecurities.

Psychoeducation is fundamental both for the affected person and for his/her 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 favour the social support of the affected person and to provide specific guidelines and resources to be taken into account.