Neuromuscular diseases lead to abnormal functioning of the nerves and muscles. Symptoms of neuromuscular disease include both weakening of muscle strength or muscle atrophy, as well as changes in tendon reflexes - their intensification or, conversely, weakening. What are the causes of neuromuscular diseases? What is their treatment?
Neuromuscular diseasesis a group of various diseases in which there are disturbances in the activities of the nervous system and muscles that are supplied by these structures. Neuromuscular diseases can appear at any age, in both men and women. There are neuromuscular diseases that begin already in childhood, as well as individuals from this group whose first symptoms do not develop until late adulthood.
Contents:
- Neuromuscular diseases: types
- Neuromuscular diseases: causes
- Neuromuscular diseases: symptoms
- Neuromuscular diseases: diagnosis
- Neuromuscular diseases: treatment
- Neuromuscular diseases: prognosis
Neuromuscular diseases: types
The list of neuromuscular diseases known so far is quite long, but most often this group includes such units as:
- Amyotrophic Lateral Sclerosis
- various muscular dystrophies (e.g. Duchenne muscular dystrophy or Becker muscular dystrophy)
- myasthenia gravis
- Lambert-Eaton syndrome
- botulism (caused by botulinum toxin poisoning)
- hereditary spastic paraplegia
- congenital myopathy
- spinal muscular atrophy
- stiff man syndrome
- Guillain-Barre team
- Kearns-Sayer team
- Charcot-Marie-Tooth disease
- Friedreich's ataxia
- mitochondrial myopathy
- tetanus
Neuromuscular diseases: causes
There are different causes of neuromuscular diseases. Most of the individuals in this group are caused by inborn genetic mutations. However, the fact that the patient is born with a mutation does not mean that the symptoms of the disease will appear in him from birth - the effects of burdening certain mutations may appear after a different time from birth.birth.
Not only mutations are responsible for the occurrence of neuromuscular diseases. Another possible cause of these entities is disorders of the immune system - some of them develop specific antibodies which, by binding to receptors in the connections between nerves and muscles, prevent the neurotransmitters from working properly. In other neuromuscular diseases, a specific type of inflammation may develop.
Infections with specific bacteria can also lead to neuromuscular diseases - some of these pathogens (e.g. tetanus) produce toxic substances that can interfere with the functioning of muscles and nerves. Speaking of toxins, it is worth mentioning that the cause of neuromuscular disease can also be poisoning with various substances (e.g. heavy metals).
In the case of some diseases from the discussed group, their pathogenesis is better known, in the case of others, much less is known about their causes (as an example one can mention neuromuscular diseases in which autoimmune disorders are involved). However, the symptoms that occur in their course are much more known than the causes of these diseases.
Neuromuscular diseases: symptoms
Patients with neuromuscular diseases may suffer from various types of ailments - their extent and specific type depends on the exact disease a given person suffers from. However, the most characteristic of these units is:
- muscle weakness - to a varying degree and concerning a different number of muscles - in some people, the disorders affect only the muscles of the upper limbs, while in others the function of basically all muscle groups may deteriorate)
- Muscle wasting Another problem is associated with decreased muscle strength: muscle wasting. Basically, they happen when the muscle loses its innervation and thus also loses its function.
Other pathologies that may occur in the case of any of the diseases in question are:
- paresis
- paralyze
- myalgia (muscle pain)
- tremors of individual muscle bundles (fasciculations)
Symptoms of neuromuscular diseases are also abnormalities in tendon reflexes - patients may experience both excessive reflexes and their significant weakening.
Above is just an outline of ailments that may occur in various neuromuscular diseases. However, the exact clinical picture depends on the specific onediseases - other symptoms not listed above may appear in various units of this group.
Neuromuscular diseases: diagnosis
The course of the diagnostic process in a patient suspected of having a neuromuscular disease depends on the exact individual that is suspected. Initially, however, all patients undergo a neurological examination, and a detailed medical history is collected - the detected deviations allow for an initial diagnosis of one of the neuromuscular diseases.
How is further diagnostics going? Some patients undergo imaging tests, others may use electromyography (EMG). If a neuromuscular disease of genetic origin is suspected, it is possible to carry out genetic tests that will confirm or exclude the patient having a mutation causing a given disease.
Neuromuscular diseases: treatment
Therapeutic management of neuromuscular diseases depends on the exact disease the patient is struggling with. For example, pharmacological treatment is possible in patients with myasthenia gravis. However, in the case of many of these diseases (especially those caused by genetic mutations), medicine does not yet have methods of treating them. In such patients, the most important interactions that allow them to maintain physical fitness as long as possible - we are talking here primarily about physical therapy and rehabilitation.
Neuromuscular diseases: prognosis
The prognosis of patients with neuromuscular disease can be very different. In some of these units, the prognosis is good, e.g. in myasthenia gravis, its symptoms can be managed with pharmacological treatment. In addition, it happens that patients experience completely spontaneous remission of the disease. However, there are neuromuscular conditions that can significantly shorten patients' lives. Such a unit is, for example, Duchenne dystrophy, where - due to insufficient respiratory muscles - death may occur even before the patient turns 30.
Sources: 1. Muscular Dystrophy Association materials, on-line access: https://www.mda.org/disease2. Muscular Dystrophy Canada materials, on-line access: http://www.muscle.ca/about-muscular-dystrophy/types-of-neuromuscular-disorders/3. Genetics Education Materials for School Success, “Neuromuscular Disorders at a Glance”, on-line access: https://www.gemssforschools.org/sites/www.gemssforschools.org/files/library/pdfs_for_printing-dec2015/printable_neuromuscular-12.10 .15.pdf
About the authorBow. Tomasz NęckiA graduate of medicine at the Medical University of Poznań. An admirer of the Polish sea (most willingly strolling along its shores with headphones in his ears), cats and books. In working with patients, he focuses on always listening to them and spending as much time as they need.