Muscular diseases. Neuromuscular diseases. How is the diagnosis made?

10.10.2019

For ordinary person muscle diseases are stretching, tearing and injury. Perhaps when it blows in a draft and another cramp. But this is not all muscle diseases that happen.

There are diseases caused by metabolic disorders, changes in muscle cells and at the genetic level.

Spasm

Cramps can occur as a result of dehydration and an imbalance of electrolytes (salts). As a result, the muscles contract and harden, then relax very slowly.

The elderly are at risk. Usually occurs at night and is accompanied severe pain. In the muscle, nutrition and blood flow are disturbed.

It is important to drink enough water during cramps. Massage, heat compresses also help.

If seizures occur frequently, see your doctor.

Rheumatic diseases

There are a lot of them, they affect not only the muscles, but also the blood vessels that feed them. Most often, a person experiences pain in the shoulders and hips. And such a disease as it affects the muscles of the skeleton.

Prescribe treatment with glucocorticoids. They remove the inflammatory process, but can cause many side effects. Physiotherapy is prescribed.

Hormonal disorders

Endocrine myopathy - painful muscle weakness, occurs due to an increase in the function of the adrenal cortex or thyroid gland. After treatment of hormonal metabolism disorders, the painful condition disappears.

Causes of endocrine myopathy:

or hypothyroidism;
acromegaly;
Addison's disease.

Muscle inflammation (myositis)

The symptoms of muscle inflammation are similar to those of rheumatic diseases, but when the muscles become inflamed, the muscles themselves are also affected. It is characterized not only by pain, but also by pronounced muscle weakness.

myasthenia gravis

This is an autoimmune neuromuscular disease that leads to rapid fatigue of the striated muscles. It usually appears between the ages of 15 and 40. Quite rare, about 5-10 people per 100 thousand of the population are sick.

mutation of proteins responsible for the construction and operation of neuromuscular synapses;
thymus tumor.

As a rule, the muscles of the eyelids, chewing, swallowing are affected. The gait may change.

This disease can be both congenital and acquired. Stress is main reason to activate it.

The reasons

Mineral deficiency

For normal work, like other organs, useful material. Potassium deficiency, for example, can lead to paralysis. This is especially acute for children and young people in the morning after a hard day.

Potassium-rich drugs are prescribed for treatment. And before going to bed, it is not recommended to overeat or exercise intensively.

Enzyme Deficiency

It often occurs in children who have impaired function of the breakdown of enzymes that break down glycogen and glucose. They serve as the main source of energy for the muscles.

A child with enzyme deficiency syndrome is strongly protected from any physical activity.

Painful muscle fatigue

Painful muscle fatigue occurs due to acidosis. To obtain the necessary energy during high physical exertion of the muscles, the available glucose is split into lactic acid, which the blood is not able to quickly remove from the body. Lactic acid begins to build up in the muscles, causing pain.

Prevention and treatment of muscle diseases

Nutrition and the nutrients that you get from it play a huge role in the prevention of muscle diseases. One of the key building blocks is protein. We recommend .

In order to regulate the immune and hormonal processes in the body during treatment and prevention, we recommend adding to your regular diet and a product that. Both of them contribute to the regulation of all processes in the body, including the central nervous system. They are powerful antioxidants and will give additional protection from viruses and bacteria.

Be healthy!

A symptom of a neuromuscular disease can be muscle spasms or, conversely, their sharp relaxation.

Hereditary neuromuscular diseases combine a whole group of diseases, common characteristic which is "recorded" in the genome violations in the work of the neuromuscular apparatus. Muscle atrophy, their excessive contraction or, on the contrary, relaxation - all this can be a sign of inherited diseases.

Types of hereditary neuromuscular diseases

Hereditary neuromuscular diseases include many different disorders, which are divided into several groups:

primary progressive muscular dystrophies or myopathy.
secondary progressive muscular dystrophies.
congenital non-progressive myopathies
myotonia
hereditary paroxysmal myoplegia.

Primary progressive muscular dystrophies or myopathies

Myopathies include a group of diseases that are manifested by muscle weakness and muscle dystrophy, which increase over time. In diseases of this group, it occurs in muscle cells, which leads to atrophy of muscle fibers.

With myopathies, the muscles of the limbs, pelvis, hips, shoulders, torso can be affected, depending on the specific type of disease. The most common are: the youthful form of Erba-Roth, the shoulder-scapular-facial form of Landuzy-Dejerine, the pseudo-hypertrophic form of Duchenne.

In myopathies, muscle strength and muscle tone decrease symmetrically. Pseudohypertrophy often develops - an increase in muscles due to the growth of fat and connective tissue. Infections, intoxication, stress can accelerate the course of the disease.

Primary progressive muscular dystrophies with an active course, they can lead to disability and complete immobilization.

Secondary progressive muscular dystrophies

With the development of these diseases, the work of peripheral nerves is primarily disrupted. The innervation of the muscles is disturbed, which leads to the occurrence of muscular dystrophies.

Secondary progressive muscular dystrophies include three varieties: congenital, early childhood and late. This classification is based on the time of appearance of the first signs of the disease. Depending on the form of the disease, it proceeds more or less aggressively. Depending on this, people suffering from this kind of genetic abnormalities live up to 9-30 years.

Non-progressive myopathies

Myotonia congenita

Myotonia congenita(Thomsen's disease) - rare hereditary disease, characterized by prolonged tonic muscle spasms that occur after the initial voluntary movements.

etiologists

This group includes diseases also associated with muscle dystrophy. Problems appear immediately at birth. At the same time, the “sluggish child syndrome” is detected - a condition when muscle lethargy, motor inhibition and a lag in the motor development of the child are observed. But non-progressive myopathies differ from other types of hereditary neuromuscular diseases in that the condition does not worsen over time and the disease does not progress.

Myotonia

This group of diseases is characterized by muscle spasms at the beginning of movement. At the beginning of the action, the muscle contracts and cannot relax for 5-30 seconds. After that, gradual relaxation still occurs and the second movement is a little easier to do. But after the rest, everything repeats again.

With this disease, spasm can involve the muscles of the face, trunk, limbs.

Hereditary myotonias include dystrophic myotonia, Thomsen's congenital myotonia, atrophic myotonia, paramyotonia and other diseases.

Enough in a simple way define myotonia is a symptom of "fist". If you suspect myotonia, the doctor asks you to quickly open your fist. A person suffering from this genetic disease cannot do this quickly and effortlessly. As a test, you can also offer to quickly open your jaws, get up from a chair, or open your squinted eye.

People suffering from myotonia often have an athletic build. This is due to the fact that in these diseases certain muscle groups are hypertrophied. Under the influence of cold and muscle spasm usually increases.

As a rule, a person who "has" myotonia in his genome can coexist with it. Such people just need to choose the right profession, in which there is no need for sudden movements. But there are varieties of myotonia, in which there is a risk of disability or sudden death.

Myoplegia

Another type of hereditary neuromuscular disease is myoplegia. In this case salient feature diseases are bouts of muscle weakness. There are several forms of paroxysmal myoplegia: hypokalemic, hyperkalemic and normokalemic.

With this disease in muscle cells, the polarization of membranes is disrupted and the electrolytic properties of muscles change.

At the time of the attack, there is usually a sharp weakness in the muscles of the arms of the legs or torso. Sometimes there may be weakness of the pharynx, larynx, respiratory muscles, which can cause lethal outcome.

All forms of hereditary neuromuscular diseases are difficult to treat. But modern medicine continues to look for ways to influence genetic diseases. And in the near future, perhaps, will be developed effective ways impact on similar genetic diseases.

Muscle damage caused by a traumatic, inflammatory or toxic nature and arising from the influence of various factors predominantly on muscle fibers, causing their weakening and even atrophy, is called myositis. It is a disease that is displayed mainly on the human skeletal muscles: back, neck, chest and other groups.

If a person is characterized by the manifestation of inflammatory reactions in all muscle groups, then this already indicates polymyositis. In addition, myositis can develop into a more complicated stage, at which damage to skin areas begins, which indicates the development of dermatomyositis.

Varieties

Myositis refers to severe types of diseases that are characterized by a negative effect on human muscles, causing unpleasant pain and sometimes leading to fatal consequences. There are the following types of inflammatory processes in the muscles, depending on their location:

Myositis of the neck;
Myositis spinal muscles;
Myositis chest;
Myositis calf.

Most often, people suffer from cervical myositis, and less often - calf. The disease is characterized by the defeat of both the elderly and the younger contingent, as well as babies. You can protect yourself from the disease, but, first of all, you need to know as much information about it as possible, which the article will tell about.

Myositis of the neck muscles- this is a frequent and widespread ailment among people in whom the cervical muscular system is predominantly affected. Cervical myositis is also the most dangerous ailment, since its localization affects not only the muscles, but also affects the temporal part, the region of the head and cervical vertebrae. Myositis of the cervical muscles is caused by negative influence cold on muscle tissue, which actually leads to inflammation. But we will talk about the reasons for the localization of the disease later.

Myositis of the back muscles also a fairly frequent human malaise, through which the back is affected. The inflammatory process begins its origin on the surface of muscle fibers and spreads to the skin and even bone tissue.

Myositis of the chest manifests itself in rare cases, but is characterized by spreading to the shoulders, arms, neck.

calf view- most rare disease, but it entails big problems. Due to the defeat of the calf muscle, a person is characterized by a manifestation of weakness in the legs up to the impossibility of movement.

Depending on the stage of development of the disease, the following two types of the disease are distinguished:

Spicy, which is characterized by a sudden lesion of certain muscle groups and is characterized by a painful manifestation of symptoms.
Chronic manifested due to a long absence of therapeutic measures. Symptoms in the chronic form are less pronounced, but manifest themselves independently (for no reason) during a person's life.

Ossifying myositis

A separate species is also ossifying myositis, which is characterized by the formation of petrification of muscle areas. As a result of ossification of muscle areas, they grow, which entails serious ailments. Myositis ossificans is divided into three subspecies:

Traumatic;
Progressive;
Trophoneurotic.

Traumatic ossifying myositis characterized by the speed of localization and the presence of a solid component in the muscle, which resembles. Traumatic subspecies occurs mainly in childhood and often in boys.

Progressive myositis ossificans characterized by education during prenatal development fetus. Muscle ossification in a progressive subspecies is determined by the duration of the increase in the disease.

Trophoneurotic ossifying myositis has similar symptoms with a traumatic appearance and differs only in the causes of formation: it occurs due to disorders of the central and peripheral nervous systems.

Causes of the disease

What is myositis, and what varieties of it are now known, it is still necessary to find out what causes the signs of the onset of the disease. Consider the main causes of the disease in humans.

Let us consider what causes of provoking the disease are inherent in one or another type of this disease.

cervical myositis often occurs due to the effect of cold on the surface of the body. A secondary reason for the formation of this species is a cold, muscle strain and an uncomfortable posture.

Spinal myositis occurs due to the influence of the following factors:

ingress of infectious or bacterial microorganisms;
with or scoliosis;
due to the frequent predominance of heavy physical exertion, overvoltage;
with edema or hypothermia.
Often, myositis of the back muscles occurs during pregnancy, when the fetus grows every day, and the load on the back increases.

Myositis of the chest occurs as a result of the influence of the following factors:

injuries;
pathological deviations of connective tissues;
, scoliosis and arthritis;
upon infection.

The formation of inflammatory processes of the chest through its hypothermia or constant stress is not excluded.

In addition, reasons such as genetic predisposition, frequent stressful situations and sharp drops mood, as well as ultraviolet radiation. Radioactive radiation, in addition to affecting the skin, can also cause inflammation of muscle tissue.

Having information about the causes of the disease, you can try by all means to avoid its localization. In case of inflammation muscular system the disease begins to develop, characterized by certain symptoms.

Symptoms

Symptoms of the disease are manifested mainly by the presence of pain in the affected muscles. Consider the symptoms of each type of myositis in more detail.

Symptoms of cervical myositis

Myositis of the cervical muscles manifests itself in the form of a predominance of symptoms of dull pain, which often occurs on only one side of the neck. With such pain, it is difficult for a person to turn and raise his head. With the development of the disease, pain spreads, which already radiates to the ear, shoulder, temple and interscapular region. There is also pain in the cervical vertebrae.

Cervical myositis, also at an early stage of localization, is caused by an increase in human body temperature, the appearance of chills and even fever. The neck area swells, turns red and becomes hard. During the touch, "hellish pain" is felt.

Myositis of the neck can be both chronic and acute. Acute myositis of the neck occurs unexpectedly, for example, due to injury. Chronic develops gradually, and the acute form can serve as the basis for its development.

Symptoms of spinal myositis

If a person has developed myositis of the back, then the symptoms will differ from the previous type. First of all, myositis of the back or lower back has a longer course of symptoms of the disease. It all starts with a slight sipping of the muscles and the predominance of the aching character. At the same time, the muscles are in a compacted state, but when you try to stretch them, a dull pain is felt.

With the development of the disease, muscles can often atrophy. Pain can be localized not only in the lumbar region, but also spread over the entire surface of the back. In such cases, the patient's spine is affected, which leads to acute pain. When feeling, you can observe the stiffness and swelling of the spinal muscles. Often the place of the pain syndrome is accompanied by a change in color, the predominant role of which is occupied by a lilac color.

Spinal myositis becomes a consequence of problems with the spine. During the localization of the disease, fatigue, weakness appear, the temperature rises to 37-38 degrees and mild signs of chills.

Disease of the muscles of the chest manifests itself in the form of mild symptoms. Initially caused by aching pain, turning into a pulling. Feeling when pressing on the chest sharp pain which can often radiate to the neck and shoulders.

As the disease develops, acute muscle spasms and morning muscle numbness occur. There is shortness of breath and muscle atrophy. The spread of the inflammatory process is characterized by the appearance of pain in the arms, shoulders and neck. In addition, the occurrence of such symptoms in chest myositis is also characteristic:

puffiness;
difficulty swallowing;
shortness of breath, cough;
headaches and dizziness.

The skin of the chest becomes more sensitive. Night pains lead to poor sleep, which makes the patient irritable. When feeling the skin of the chest, seals are felt. The pain is aggravated by exposure to cold.

Symptoms of myositis ossificans

The symptoms of this type are of a special nature due to the fact that foci of inflammation of tissue sites are formed in the deep sections. Myositis ossificans affects the following areas of the body:

hips;
buttocks;
limbs;
shoulders.

With the localization of the disease, a soft slight swelling occurs, resembling dough when touched. After some time (depending on the nature of the course), ossification of the seal occurs, which is clearly expressed by signs of pain. This pain makes it clear to the specialist the prevalence of the disease and the reason for treatment.

If treatment is not started, then the symptoms worsen and manifest as an increase in swelling and the acquisition of a rough form. Body temperature rises and chills occur closer to 2-3 weeks after the first symptoms. If the disease becomes a complication, then surgical intervention is necessary, otherwise the inflammation will spread to neighboring organs and eventually lead to fatal consequences.

A characteristic feature of leg muscle myositis is the predominance of pain in the lower extremities. At first, slight muscle contraction begins, after which it develops into pain. When feeling the legs, coarsening of the skin and hardening are observed.

In a person with pain in the legs, the gait changes, fatigue quickly occurs, there is no desire to get out of bed. When the muscles are warmed, a picture of pain reduction is observed, but not until a complete cessation. If appropriate measures are not taken, then the pain spreads to the foot. A person cannot move it, as the muscle is in a deformed state, and any attempts to move the foot bring severe pain.

Myositis is a disease that can be treated and successfully eliminated on initial stages at acute form. The situation is much more complicated with a chronic view. It must be treated annually to prevent the spread of the inflammatory process throughout the body. Before treatment, you should undergo a diagnosis to identify the type of disease.

Diagnostics

Diagnosis includes, in addition to anamnesis, the following types of examinations:

A blood test for enzymes, through which muscle inflammation is determined;
A blood test for antibodies, on the basis of which the presence of immune diseases will be determined;
MRI, through which the clarification of damage to muscle fibers is carried out;
Determination of muscle response is carried out using electromyography.
You will also need a muscle biopsy, which will show the presence of cancer cells.

The main success in getting rid of the disease is the time at which the patient with the disease will turn. If the diagnosis is made at an early stage, then the treatment will be more effective.

Treatment

Myositis is subject to treatment, but depending on the stage of deepening of the disease, various methods. First of all, bed rest and muscle warming will be required, which will help reduce pain symptoms.

Myositis is treated with medical preparations non-steroidal anti-inflammatory type:

Ketonal;
Nurofen;
Diclofenac;
Reopirin.

Muscle warming can be done with ointments:

Finalgon;
Apizartron;
Nicoflex.

These ointments, in addition to warming, also reduce muscle tension. You can treat children at home with Doctor Mom ointment.

If the temperature rises, then antipyretic drugs are used. Be sure to treat myositis should be carried out using therapeutic methods. These include:

massage;
physiotherapy;
gymnastics;
physiotherapy.

Treatment of neck myositis is aimed at relieving pain and removing the cause of the disease. In addition to rubbing the neck with warming ointments, novocaine blockade is prescribed for unbearable pain. When using novocaine, there is a rapid and effective reduction pain.

In the case of the most severe type of myositis - purulent, only surgical intervention will be required. The operation includes the formation of an incision on the skin in the area of the inflammation and the removal of pus using the installation of a special drainage.

neuromuscular disorders) N. - m. R. are pathological processes, in which motor neurons are affected, incl. axons and innervation of muscle fibers by motor neurons. Mn. from N.-m. R. are hereditarily caused though at nek-ry from them the genetic communication is not found. In genetic transmission, the carrier is usually the mother. Initial symptoms N.-m. R. - the appearance of asymmetric muscle weakness with intact sensory. As the disease progresses, symmetry loss muscle mass becomes apparent, there is a similar pattern of muscular atrophy on each side of the body. N.-m. R. and diseases are most easily conceptualized according to the level and degree of involvement of motor neurons. N.-m. r., due to the involvement of upper motor neurons, can manifest itself in progressive spastic bulbar palsy with bilateral intracerebral damage to the corticobulbar and corticospinal tracts. N.-m. R. may be accompanied by such demyelinating pathological processes as multiple sclerosis (PC), amyotrophic lateral sclerosis (ABS), as well as cerebrovascular disorders. Involvement of the diencephalon can cause impairments to speech, swallowing, and, in some cases, emotional control. Death usually occurs within two to three years as a result of intercurrent diseases. Often, ABS causes damage to both the upper and lower motor neuron pathways. The prevalence in women is usually lower than in men; the peak incidence is in average age(35-55 years). The first symptom is often a loss of muscle mass in the hand. In the future, this process extends to all limbs with the addition of spastic manifestations. Death occurs within 1 to 5 years of the course of the disease. The etiology of ABS is unknown. The pathology of the lower motor neurons includes Werdnig-Hoffmann's disease and Oppenheim's disease; progressive neuropathic muscular atrophy can also be classified in this category. These diseases are characteristic childhood, with the exception of Oppenheim's disease, which occurs preim. in teenagers. Death occurs within one to two years; normal life expectancy can be observed with Dejerine-Sottas disease, which can be attributed to this group. Dr. myasthenia gravis and Duchenne muscular dystrophy are quite common diseases. Myasthenia is due to a deficiency of acetylcholine due to damage to synaptic transmission. The onset of the disease usually occurs in the third decade of life. To early symptoms include ptosis and disorders of swallowing, breathing and speech with the involvement of peripheral muscles. Muscular dystrophy in Duchenne disease is inherited by an X-linked recessive gene. The carrier of the gene is a woman, the disease manifests itself in males. muscle weakness develops not earlier than the third, fourth or even fifth year of life. Appeared dystrophic disorders progress until the onset of death at the end of the second decade of life. N.'s treatment - m. R. aimed at preventing infections and controlling spasticity. Psych. interventions include counseling and strengthening patient support mechanisms. See also Mental and Behavioral Disorders in CNS Lesions, Multiple Sclerosis, Psychophysiology J. Hind

Neuromuscular diseases (NMD) are the most numerous group of hereditary diseases, which are based on genetically determined damage to the anterior horns of the spinal cord, peripheral nerves and skeletal muscles.

Neuromuscular diseases include:

1) progressive muscular dystrophies (primary myopathies);

2) spinal and neural amyotrophies (secondary myopathies);

3) congenital non-progressive myopathies;

4) neuromuscular diseases with myotonic syndrome;

5) paroxysmal myoplegia;

6) myasthenia gravis.

15.2. Progressive muscular dystrophies (primary myopathies)

Progressive muscular dystrophies (PMD), or primary myopathies, are characterized by degenerative changes in muscle tissue.

Pathological changes PMD is characterized by thinning of the muscles, replacing them with adipose and connective tissue. The foci of focal necrosis are revealed in the sarcoplasm, the nuclei of the muscle fibers are arranged in chains, the muscle fibers lose their transverse striation.

Pathogenesis issues remain unresolved to date. Myopathy is based on a defect in the membrane of muscle cells. Great hopes are placed on molecular genetics.

Various forms of myopathy differ in the type of inheritance, the timing of the onset of the process, the nature and speed of its course, and the topography of muscle atrophy.

Myopathies are clinically characterized by muscle weakness and atrophy. There are various forms of PMD.

15.2.1. Duchenne myodystrophy (pseudohypertrophic form of PMD)

It occurs most frequently of all PMD (30:100,000). This form is characterized by an early onset (2-5 years) and a malignant course, predominantly boys are ill. Duchenne myopathy is inherited in an X-linked recessive manner. The pathological gene is localized in the short arm of the chromosome (X, or chromosome 21).

The mutation of the gene is quite high, which explains the significant frequency of sporadic cases. Mutation (most often deletion) of the gene leads to the absence of dystrophin in the membrane of muscle cells, which leads to structural changes in the sarcolemma. This promotes the release of calcium and leads to the death of myofibrils.

One of the first signs of the disease is the compaction of the calf muscles and a gradual increase in their volume due to pseudohypertrophy. The process is ascending. The advanced stage of the disease is characterized by a "duck" gait, the patient walks, waddling from side to side, which is mainly due to weakness of the gluteal muscles.

As a result, there is a tilt of the pelvis towards the non-supporting leg (Trendelenburg phenomenon) and a compensatory tilt of the torso in the opposite direction (Duchenne phenomenon). When walking, the side of the slope changes all the time. This can be checked in the Trendelenburg position by asking the patient to raise one leg, bending it at right angles at the knee and hip joint: the pelvis on the side of the raised leg drops (and does not rise as normal) due to weakness of the gluteus medius muscle of the supporting leg.

With Duchenne myopathy, pronounced lordosis, pterygoid scapulae, typical muscle contractures, knee jerks fall out early. It is often possible to detect changes in the skeletal system (deformity of the feet, chest, spine, diffuse osteoporosis). There may be a decrease in intelligence and various endocrine disorders (adiposogenital syndrome, Itsenko-Cushing's syndrome). By the age of 14-15, patients are usually already completely immobilized; in the terminal stage, weakness can spread to the muscles of the face, pharynx, and diaphragm. They die most often in the 3rd decade of life from cardiomyopathy or the addition of intercurrent infections.

A distinctive feature of Duchenne myopathy is a sharp increase in a specific muscle enzyme - creatine phosphokinase (CPK) by tens and hundreds of times, as well as an increase in myoglobin by 6-8 times.

For medical genetic counseling, it is important to establish heterozygous carriage. In 70% of heterozygotes, subclinical and clinical signs of muscle pathology are determined: compaction and increase calf muscles, rapid muscle fatigue during physical exertion, changes in muscle biopsy specimens and biopotentials according to EMG.