Neuromuscular diseases. Hereditary diseases of the nervous system, muscular dystrophies, myasthenia gravis

Neuromuscular diseases are a group of hereditary and non-hereditary diseases characterized by dysfunction:

• muscular system - myopathy and myotonia;
• neuromuscular synaptic apparatus - myasthenia gravis and myasthenic syndromes;
• peripheral nerves, motor neurons of the anterior spinal horns - secondary (neurogenic) amyotrophy (neural and spinal).

The group of neuromuscular diseases includes disorders of locomotor function and muscle weakness. There are the following neuromuscular diseases:

• myopathy;
• myotonia;
• secondary (neurogenic) amyotrophy;
• myasthenia.

Diagnosis and differential diagnosis of NMZ, especially in the early stages of the course, is very difficult. In such cases great importance acquire genetic, neurophysiological, biochemical and morphological research methods.

Neurophysiological research methods:

• electromyography (EMG);
• electroneuromyography (ENMG).

Local (needle) EMG especially informative in primary muscle processes and registration of denervation potentials (one-, two-phase potentials of fibrillations, fasciculations).

Global (skin) EMG informative for neural and spinal levels of damage (type II EMG according to Yusevich), as well as for studying the functional state of peripheral motor neurons and the influence of the structures of the pyramidal and extrapyramidal systems on them.

ENMG allows you to determine the speed of the impulse on the afferent and efferent fibers of the peripheral nerves. Analysis of muscle evoked responses and action potential (AP) of the nerve is informative in the diagnosis of myelinopathy (sensorine and/or neuromotor) and axonopathy (sensorine and/or neuromotor). Stimulation ENMG (rhythmic nerve stimulation method) detects neuromuscular (synaptic) transmission lesions.

Neurophysiological research allow to judge the localization of the pathological process and the degree of involvement of the neuromotor apparatus, and also help to differentiate various neuromuscular diseases. These methods are non-invasive and can be used multiple times.

Biochemical research include determining the activity of enzymes, in particular creatine phosphokinase (CPK), lactate dehydrogenase (LDH) and fructose diphosphate aldolase (FDA), as well as changes in the creatine-creatinine index. The activity of these enzymes sharply increases with progressive muscular dystrophy (PMD), especially in the early stages of the process: the activity of CPK in the blood serum increases tenfold, sometimes 50 times or more; LDH activity - 5-7 times; FDA activity - 2-5 times. AT late stages the activity of enzymes in the blood serum decreases to normal values. In secondary neural and spinal amyotrophies, the properties of enzymes change relatively little. CPK activity is a very sensitive marker of muscle damage, but its moderate increase is also observed in amyotrophic lateral sclerosis, after exercise or a convulsive attack.

Pathological studies. According to the results of a biopsy of skeletal muscles in patients with PMD, the growth of connective tissue, with spinal and neural amyotrophies - denervation atrophy of muscle fibers.

Treatment of neuromuscular diseases

Treatment of NMD, including PMD, is extremely difficult. Difficulties in therapy are associated with the sometimes impossible determination of the primary metabolic defect in certain forms of hereditary diseases, as well as with the steadily progressive course of these diseases, especially primary PMD.

Treatment is aimed at slowing down the rate of development of the disease and maximizing the patient's ability to self-service. Principles of treatment:

1. correction of skeletal muscle metabolism (metabolic stimulants, anabolic steroids, potassium preparations, vitamins);
2. stimulation of the segmental apparatus (myostimulation, neurostimulation, biofeedback - methods of biological feedback EMG, reflexology, balneotherapy,

Speaking of muscle diseases, meaning diseases of the striated muscles - which a person can control by willpower (muscles internal organs, called smooth, are set in motion regardless of the will of the person, because their function is controlled by the autonomic (autonomous) nervous system).

The main muscle diseases are ruptures (most often the result of trauma), as well as acquired and congenital diseases. The first symptoms of congenital myopathy ( muscle weakness and atrophy) appear in children and even newborns. Congenital myopathy is incurable. Acquired myopathy is most often associated with autoimmune diseases (eg, scleroderma, dermatomyositis).

Diagnostics

The diagnosis is established by a blood test. There are certain proteins that in a healthy body are found in muscle cells. When these cells (myocytes) become ill, some of them die, and these protein compounds enter the bloodstream. The doctor determines by a blood test whether the amount of protein in the blood has increased. With the help of a special device, the doctor records an electromyogram, according to its data, one can judge the nature of the muscle disease. In addition, it is necessary to find out if the nerves are affected. For this purpose, a device has been created that provides information on the propagation of impulses along the nerves. The final diagnostic method is a biopsy. The doctor inserts a hollow needle into the muscle tissue and takes a sample of it, which is examined under a microscope. Genetic testing is also carried out to confirm the diagnosis.

muscle tear

Symptoms:

• Muscle pain due to overuse.
• A deepening or swelling is felt in the muscle due to hematoma.

Due to excessive stress, individual muscle fibers or the entire muscle can tear. This can happen during an accident or sports. If torn most of muscle fibers, a depression appears, determined by touch.

There is severe pain. If most or all of the muscle is torn, surgery is needed. When providing first aid, it is recommended to apply ice to the affected area. Cold reduces pain, acts anti-inflammatory, protects tissues from severe swelling. Later, therapeutic exercises help to strengthen the muscles.

Most often, “cold” muscles are still torn, i.e. when excessive load falls on insufficiently prepared muscles. Therefore, before intensive classes sports need exercises to warm them up (stretching exercises, massage).

congenital myopathy

Symptoms:

• Weakness of the affected muscle.
• Soft, atonic muscles that may be abnormally large or small.
• Pain.
• Seizures.
• Twitching of individual muscle fibers.

All diseases that cause a decrease in muscle tissue and are accompanied by a violation or cessation of muscle function are congenital. At first, it is not possible to diagnose muscle atrophy in newborns. However, it is immediately clear if the newborns have weakened muscle tone. Such people remain disabled for life. In addition, in the presence of some forms of muscle atrophy, the average duration life, children may die in the first or second year of life.

It is necessary to follow a special diet and avoid food with great content carbohydrates and fats. In addition, assigned physiotherapy, but the exercises are selected very carefully, because. in some diseases it can be harmful.

Spasm

As a result of exicosis (dehydration of the body) and an imbalance of electrolytes (salts), a muscle cramp may appear: the muscles contract and harden, then they slowly relax. This cramp usually occurs at night or in the morning. The person suddenly feels very severe pain. Seizures are especially common in the elderly. If the muscles constantly have too much huge pressure and their nutrition is disturbed, hardening may appear. Muscle fibers are reborn into connective tissue, which is palpable in the form of dense knots. The patient is advised to drink plenty of fluids. Thus, the water-salt balance of the body is restored.

If the painful condition of the muscles does not go away, then you need to see a doctor. Muscle hardening is treated with massage, vitamin E and thermal treatments.

Rheumatic diseases

There are many various diseases related to rheumatic, with a disease that affects either the muscles themselves, or (more often) the blood vessels that feed them. First of all, there are pains in the shoulders and hips. Some rheumatic diseases, such as dermatomyositis, affect the muscles of the skeleton. Hormonal treatment with glucocorticoids is effective. They suppress the inflammatory process, but cause many side effects. Therefore, usually the symptoms of rheumatic diseases are tried to suppress with other effective anti-inflammatory drugs or with the help of physiotherapy.

Muscle inflammation (myositis)

The symptoms of myositis are similar to those of rheumatic diseases, however, with myositis, the muscles themselves are also affected. Myositis is characterized not only by pain, but also by pronounced muscle weakness. Myositis is treated in the same way as rheumatic diseases.

Mineral deficiency

Muscles need a sufficient amount of certain substances to function properly. For example, paralysis can occur as a result of potassium deficiency. This is especially acute for children and young people in the morning after a hard day. Treatment is carried out with potassium preparations. In addition, before going to bed, you should not overeat or exercise intensively.

Enzyme Deficiency

Children occasionally have a congenital deficiency of a particular enzyme. Quite often there is a violation of the function of enzymes that break down glycogen and glucose, which are a source of energy for muscles. Due to a congenital deficiency of enzymes, the muscles receive insufficient energy, resulting in their weakening. A person with enzyme deficiency syndrome should avoid intense physical activity.

Painful fatigue

Painful muscle fatigue occurs due to acidosis. To obtain the necessary energy at large physical activity there is a breakdown of existing glucose to 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.

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 myopathies.
• 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 adipose 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) is a 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, a “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.

In this disease, spasm can involve the muscles of the face, trunk, and 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 death.

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.

is an inflammatory process in skeletal muscles. Can affect any muscle. most characteristic common symptom is local pain in the muscle (or muscles), aggravated by movement and palpation. Over time, due to the protective tension of the muscles, there may be a limitation in the range of motion in the joints. With a long course of some myositis, there is an increase in muscle weakness, and sometimes even atrophy of the affected muscle. The diagnosis is established on the basis of complaints and examination results. According to indications additional researches are appointed. The treatment regimen is selected individually and depends on the form of the disease and the cause that caused it.

Favorably flowing myositis of mild, less often moderate severity may occur after hypothermia, trauma, muscle cramps or intense physical exertion (especially in patients with untrained muscles). Pain, swelling and weakness for several hours or several days in the latter case is due to small tears in the muscle tissue. In extremely rare cases, usually with extreme physical exertion, the development of rhabdomyosis, necrosis of muscle tissue, is possible. Rhabdomyosis can also occur with polymyositis and dermatomyositis.

In people of certain professions (violinists, pianists, PC operators, drivers, etc.), myositis can develop due to an uncomfortable body position and prolonged stress on certain muscle groups. The cause of purulent myositis can be an open injury with infection, a focus of chronic infection in the body, or local infection due to poor hygiene during intramuscular injections.

Classification

Taking into account the nature of the process in surgery, neurology, traumatologists and orthopedics distinguish acute, subacute and chronic myositis, taking into account the prevalence - local (limited) and diffuse (generalized). In addition, there are several special forms myositis:

Most often, a local process (damage to one or more, but not many muscles) develops in the muscles of the neck, lower back, chest and shins. characteristic symptom myositis is aching pain, aggravated by movement and palpation of the muscles and accompanied by muscle weakness. In some cases, with myositis, there is a slight reddening (hyperemia) of the skin and a slight swelling in the affected area. Sometimes myositis is accompanied by general manifestations: subfebrile temperature or fever, headache and an increase in the number of leukocytes in the blood. On palpation of the affected muscle, painful seals can be determined.

Myositis can develop acutely or have a primary chronic course. acute form can also become chronic. This usually occurs in the absence of treatment or with inadequate treatment. Acute myositis occurs after muscle strain, injury or hypothermia. Infectious and toxic myositis is characterized by a gradual onset with less pronounced clinical symptoms and primarily chronic.

Chronic myositis proceeds in waves. Pain appears or intensifies with prolonged static loads, weather changes, hypothermia or overexertion. Muscle weakness is noted. It is possible to limit movements (usually insignificant) in adjacent joints.

Types of myositis

Cervical and lumbar myositis

Dermatomyositis and polymyositis

Dermatomyositis belongs to the group of systemic connective tissue diseases. It is quite rare - according to foreign researchers, five people per 1 million people are sick. It usually affects children under the age of 15 or people of mature age (50 years and older). It is twice as common in women as in men.

Classical manifestations of such myositis are considered typical symptoms of the skin and muscles. There is weakness of the muscles of the pelvic and shoulder girdle, abdominal muscles and neck flexors. Patients have difficulty getting up from a low chair, climbing stairs, etc. With the progression of dermatomyositis, it becomes difficult for the patient to hold his head. In severe cases, it is possible to damage the swallowing and respiratory muscles with the development of respiratory failure, difficulty swallowing and a change in the timbre of the voice. Pain syndrome in dermatomyositis is not always expressed. There is a decrease muscle mass. Over time, muscle areas are replaced by connective tissue, tendon-muscle contractures develop.

From the side of the skin, a heliotrope rash (red or purple rashes on the eyelids, sometimes on the face, neck and trunk) and a symptom of Gottron (pink or red scaly plaques and nodules along the extensor surface of small and medium joints of the extremities) are observed. It is also possible to damage the lungs, heart, joints, gastrointestinal tract and endocrine system disorders. Approximately a quarter of patients have manifestations only from the muscles. In this case, the disease is called polymyositis.

The diagnosis is made on the basis clinical picture and data from biochemical and immunological blood tests. A muscle biopsy may be performed to confirm the diagnosis. The basis of therapy is glucocorticoids. According to the indications, cytostatic drugs (azathioprine, cyclophosphamide, methotrexate) are used, as well as medicines aimed at maintaining the functions of internal organs, eliminating metabolic disorders, improving microcirculation and preventing the development of complications.

Myositis ossificans

It is not one disease, but a group of connective tissue diseases. It is characterized by the formation of ossification areas in the muscles. It can occur due to trauma or be congenital, genetically determined. Traumatic ossifying myositis has a relatively favorable course. Only the muscles and articular ligaments in the area of ​​injury are affected. Treated surgically. The final result of the operation depends on the location and extent of the damage.

Progressive myositis ossificans is a hereditary disease. It starts spontaneously, gradually covers all muscle groups. The course of myositis is unpredictable. Specific prevention and there is no cure yet. Death in progressive myositis occurs due to ossification of the swallowing and pectoral muscles. It is extremely rare - 1 case per 2 million people.

Myositis treatment

In acute myositis and exacerbation of chronic myositis, the patient is recommended bed rest and restriction physical activity. When the temperature rises, antipyretics are prescribed. Analgesics are used to combat pain, and anti-inflammatory drugs, usually from the NSAID group (ketoprofen, ibuprofen, diclofenac, etc.), are used to eliminate inflammation. With local myositis, warming ointments are effective. The local irritant effect of these drugs helps to relax the muscles and reduces the intensity of the pain syndrome. Massage is also used (contraindicated in purulent myositis), physiotherapy and physiotherapy exercises. With purulent myositis, an opening and drainage of a purulent focus is performed, antibiotics are prescribed.

Neuromuscular diseases (NMD) are one of the most numerous groups hereditary diseases, characterized by a violation of the functions of voluntary muscles, a decrease or loss of control over movements. These diseases are caused by a defect embryonic development or genetically determined pathology.

A characteristic manifestation of hereditary neuromuscular diseases is ataxia - a disorder of coordination of movements, impaired motor skills. At static ataxia balance is disturbed in a standing state, with dynamic - coordination during movement.

The following symptoms are characteristic of neuromuscular diseases: weakness, muscle atrophy, spontaneous muscle twitches, spasms, numbness, etc. If the neuromuscular connections are disturbed, patients may experience drooping of the eyelids, double vision, and a number of other manifestations of muscle weakness, which only intensify during the day. In some cases, there may be a violation of the swallowing function and breathing.

Classification of neuromuscular diseases

Neuromuscular diseases can be classified into four main groups depending on the location:

• muscles;
• neuromuscular endings;
• peripheral nerves;
• motor neuron.

According to the type and type of violations, they are divided into the following main groups:

• primary progressive muscular dystrophies (myopathies);
• secondary progressive muscular dystrophies;
• congenital non-progressive myopathies;
• myotonia;
• hereditary paroxysmal myoplegia.

Myopathy

The term myopathy (myodystrophy) combines enough large group diseases that are associated common feature: primary lesion of muscle tissue. The development of myopathy can provoke various factors: heredity, viral damage, metabolic disorders and a number of others.

Inflammatory myopathies (myositis) are diseases caused by inflammation. They develop as a result of autoimmune disorders and may be accompanied by other diseases of a similar nature. These are dermatitis, polymyositis, myositis with various inclusions.

Mitochondrial myopathies. The cause of the disease is structural or biochemical mitochondria. This type of disease includes:

• Kerns-Syre syndrome;
• mitochondrial encephalomyopathy;
• myoclonus epilepsy with "torn red fibers".

In addition to these diseases, there are a number of rare types of myopathies that affect the central rod, the endocrine system, etc.

With an active course, myopathy can lead to disability and further immobilization of the patient.

Secondary progressive muscular dystrophies

The disease is associated with a disruption in the functioning of peripheral nerves, a disruption in the supply of organs and tissues with nerve cells. As a result, muscle wasting occurs.

There are three types of secondary progressive muscular dystrophy: congenital, early childhood and late. In each case, the disease proceeds with a greater or lesser degree of aggression. For people with this diagnosis, the average life expectancy is between 9 and 30 years.

Congenital non-progressive myopathies

These include hereditary non-progressive or slightly progressive muscle diseases diagnosed in the prenatal period or immediately after the birth of the baby. The main symptom is muscle hypotension with pronounced weakness. This disease is otherwise called "sluggish child syndrome", which accurately characterizes his condition.

In most cases, the region of the lower extremities is affected, less often the upper ones, in exceptional cases there is a lesion of the cranial muscles - a violation of facial expressions, eye movements.

In the process of development and growth of the child, problems with motor skills are noted, children often fall, start to sit and walk late, cannot run and jump. There are no intellectual disabilities. Unfortunately, this type of myopathies is incurable.

Symptoms

With all types of myopathies, the main symptom is muscle weakness. Most often, the muscles of the shoulder girdle, hips, pelvic region, and shoulders are affected. Each type is characterized by damage to a specific muscle group, which is important to consider when diagnosing. The defeat occurs symmetrically, so he is able to perform actions in stages, gradually including various areas in the work.

If the legs and pelvic region are affected, in order to get up from the floor, you must first lean your hands on the floor, kneel, take hold of the support, and after that the patient can sit on a chair or bed. On his own, without resorting to the help of his hands, he will not be able to get up.

With myopathy, cases of damage to the muscles of the face are the least common. This is ptosis (drooping of the upper eyelid), drooping upper lip. There are problems with speech caused by a violation of articulation, a violation of the swallowing function is possible.

Most myopathies occur with almost the same symptoms. Over time, atrophy of the muscle tissue occurs, against the background of which the connective tissue actively grows. Visually, it looks like trained muscles - the so-called. pseudohypertrophy. In the joints themselves, a contracture is formed, the muscle-tendon fiber is pulled together. As a result, pain appears and joint mobility is limited.

Myoplegia

Like myopathies, these are hereditary neuromuscular diseases characterized by bouts of muscle weakness or limb paralysis. There are the following types of myoplegia:

• hypokalemic;
• hyperkalemic;
• normokalemicheskaya.

An attack of myoplegia is caused by a redistribution of potassium in the body - there is a sharp decrease in the intercellular fluid and plasma, and an increase (overabundance) in the cells. In muscle cells, there is a violation of the polarization of membranes, there is a change in the electrolytic properties of muscles. During an attack, the patient has a sharp weakness of the limbs or torso, manifestations in the pharynx, larynx, effects on Airways. This can lead to death.

myasthenia gravis

The disease most often affects women (2/3 of total patients). It has two forms - congenital and acquired. With this disease, there is a violation of the transmission of nerve impulses, resulting in weakness in the striated muscles.

The disease is associated with a change in the functions of the neuromuscular system. Weakening muscles affect the normal functioning of the organs: the patient may have permanently half-closed eyelids, urination is disturbed, and there are difficulties in chewing and walking. As a result, the disease can lead to disability and even death.

Motor neuron diseases (MND)

Motor neuron diseases are characterized by damage to the motor neurons of the brain and spinal cord. The gradual death of cells affects the function of the muscles: they gradually weaken, and the affected area increases.

The brain neurons responsible for movement are located in the cerebral cortex. Their branches - axons - descend to the region of the spinal cord, where contact with the neurons of this department takes place. This process is called a synapse. As a result, the neuron of the brain allocates a special Chemical substance(transmitter) that transmits a signal to the neurons of the spinal cord. These signals are responsible for the contraction of the muscles of various departments: cervical, thoracic, bulbar, lumbar.

Depending on the severity of neuronal damage and their localization, several types of BND are distinguished. In many ways, the manifestations of the diseases are the same, but as the disease progresses, the difference becomes more and more significant.

There are several different types of BND:

amyotrophic lateral sclerosis

It is one of the four main types of motor neuron disease. It occurs in 85% of patients diagnosed with motor neuron disease. The affected area can be both neurons of the brain and spinal cord. As a result, muscle atrophy and spasticity occur.

In ALS, there is weakness and increasing fatigue in the limbs. Some people have weakness in the legs when walking and weakness in the arms, in which it is impossible to hold things in the hands.

In most cases, the disease is diagnosed before the age of 40, while the disease does not affect intelligence at all. The prognosis for a patient diagnosed with ALS is not the most favorable - from 2 to 5 years. But there are exceptions: the most famous of all the people who lived with this diagnosis for more than 50 years is Professor Stephen Hawking.

Progressive bulbar palsy

Associated with impaired speech and swallowing. The prognosis from the time of diagnosis is up to three years from the moment of diagnosis;

Primary literal sclerosis

Affects only the neurons of the brain and affects the lower limbs. In rare cases, it is accompanied by impaired hand movements or speech problems. In later stages, it can turn into ALS.

progressive muscular atrophy

Occurs when the motor neurons of the spinal cord are damaged. The first manifestations are expressed in the weakness of the hands. The prognosis for this disease is 5 to 10 years.

Diagnostics

To establish an accurate diagnosis, it is important to conduct the following studies:

• biochemical. Determination of muscle enzymes, especially creatine phosphokinase (CPK). The level of myoglobin and aldolase is determined;
• electrophysiological. Electromyography (EMG) and electroneuromyography (ENMG) help in differentiating between primary and secondary myopathy. They also help to identify what is suffering primarily - spinal cord or peripheral nerve;
• pathomorphological. They include a muscle biopsy. The study of the material also helps to differentiate primary or secondary myopathy. Determining the level of dystrophin makes it possible to distinguish Duchenne myopathy from Becker's myodystrophy, which is important for prescribing the correct treatment;
• DNA-diagnostics. The study of DNA-leukocyte makes it possible to detect hereditary diseases in 70% of patients.

Treatment of neuromuscular diseases

When making one of the diagnoses related to neuromuscular diseases, in each specific case treatment is selected individually, taking into account all the analyzes received. The patient and his relatives should initially understand that this is a long and very difficult process requiring large financial outlays.

Difficulties in prescribing treatment are also associated with the fact that it is not always possible to accurately determine the primary metabolic defect. At the same time, the disease is constantly progressing, which means that treatment should first of all be aimed at slowing down the development of the disease. This will help preserve the patient's ability to self-care and affect his quality of life.

Methods for the treatment of neuromuscular diseases

• Correction of skeletal muscle metabolism. Medications that stimulate metabolism, potassium preparations, vitamin complexes, anbolic steroids are prescribed;
• Stimulation of the segmental apparatus. Neurostimulation, myostimulation, reflexology, balneotherapy, exercise physiotherapy exercises(exercises and load are selected individually);
• Blood flow correction. Different kinds massage, thermal procedures for certain areas, oxygen barotherapy;
• Diet and parenteral nutrition to provide the body with all the necessary nutrients - protein, potassium salts, vitamins of the desired group;
• Corrective sessions with an orthopedist. Correction of contractures, deformities of the chest and spine, etc.

To date, no medicine has been invented, from the intake of which any person will become absolutely healthy in an instant. Despite the complexity of the situation, it is important for a patient with a neuromuscular disease to continue the best possible quality of life. The example of Hawking, who was confined to a wheelchair for more than 50 years, but continued to conduct research, suggests that the disease is not a reason to give up.