Myopathy - Causes, Symptoms and Treatment .MF .

August 12, 2017 17:52 | Nerve Disease

Myopathy - is the primary muscular dystrophy, hereditary degenerative diseases, which are based on muscle fiber damage, and progressive muscle atrophy.

reasons

myopathy Myopathy - a disease metabolism in muscle, increased creatine phosphokinase levels and muscle loses its ability to bind and retain creatine, ATP content decreases, which leads to atrophy of the muscle fibers.Recognized as the theory of "defective membranes" through which the muscle fibers lose their enzymes, amino acids ... Violation of biochemical processes in the muscles ultimately leads to damage and death of muscle fibers.

symptoms of myopathy

primary myopathy begins gradually in most cases in childhood or adolescence.

myopathic manifestations can significantly strengthened under the influence of a variety of adverse factors - infection, overvoltage intoxication.

disease begins with the development of weakness and atrophy of certain muscle groups.Further dystrophic process captures all the new groups of muscles that could l

ead to the complete immobility.Mainly affects the muscles of the pelvic and shoulder girdle, trunk and proximal extremities.The defeat of the distal extremities muscles is rare in severe cases.Muscle atrophy usually bilateral.In the initial period, the prevalence of atrophy can be observed on one side, but in the course of the disease degree of damage to the muscles becomes equal in symmetrical muscles.With the development of atrophy reduced muscle strength, reduced tone, reduced tendon reflexes.When atrophy of certain muscle groups are compensatory gipertroforovatsya (increase) others.However psevdogipertrofiya develops most often - increasing the amount of muscle not due to muscle fibers, and by increasing the fat and connective tissue.These muscles become tight, but not strong.

Psevdogipertrofii calf muscle myopathy in a patient.

There may be an increase in the mobility of the joints, and can conversely reduced range of motion due to the shortening of muscles and their tendons.

Depending on a number of features and, primarily, on the age, onset, intensity and appearance and growth sequences atrophy, myopathy inheritance character is divided into a number of forms.The most common: youthful (juvenile) form Erba, shoulder - scapular - facial shape Landuzi - Dejerine and psevdogipertroficheskaya Duchenne.

In addition there are options genetically heterogeneous (different) forms.Described nosological forms of myopathies with different types of inheritance.In one embodiment the genetic allelic series allocated (different forms of the same gene), caused by different mutations in the same gene.In genokopy with a similar clinical picture may be more favorable course, long-term compensation, abortive form and very severe with early disability.

survey with myopathy

characteristic clinical signs of myopathy are symptoms of flaccid paralysis in various muscle groups without signs of motor neuron lesions and peripheral nerves.

electromyogram revealed a typical primary muscle pattern, characterized by a decrease in the amplitude of the M-response, increased interference and polyphasic potential.

When biopsy (research piece muscles revealed atrophy, fatty degeneration and necrosis of muscle fibers with the growth in their connective tissue. In some nosological forms identified specific congenital benign structural myopathies changes in muscle fibers, such as the central location of the nuclei or the presence surrounded by vacuoles.

In the analysis of blood can detect the increase in creatine kinase activity, aldolase laktatdegidrokinazy and other enzymes.

in urine increased levels of creatine and amino acids and reduced creatinine level.

Accurate diagnosis of certain clinical entities is possible only during the molecular genetic analysis, aimed atidentification of mutations in a particular gene and, in some cases, the study of the concentration of a particular protein in a biopsy of the muscle fiber

Myopathy -. hereditary diseases in the early stages of the disease for the diagnosis may require examination of all family members.

common clinical symptoms:

  • growing muscle atrophy shoulder and pelvic girdle, proximal extremities;
  • atrophy prevail over the severity of muscle weakness;
  • presence of compensatory psevdogipertrofy;
  • slowly progressive course;
  • degeneration of the heart;
  • presence of autonomic disorders.

juvenile form Erba.

This form is inherited in an autosomal - recessive manner.

Onset of the disease occurs in the second - third decade.Sick men and women.

Atrophy begins with the pelvic girdle and thighs and spread to the shoulder girdle and trunk muscles.Psevdogipertrofii are rare.Patients stand leaning on the surrounding objects - the rise of "ladder".As a result of atrophy of the back and abdominal muscles will appear curvature of the spine forward - hyperlordosis, waist becomes a "wasp".

«wasp" waist and hyperlordosis patient myopathy .

disrupted gait - patients are transshipped from side to side - "duck" gait.Characterized lagging "the wing" of the blade.It affects the muscles around the mouth - it is impossible to whistle, pulled his lips, smile (smile transverse) ottopyrivayutsya lips (lip tapir).

The later manifested the disease - so it flows more favorable.Early onset runs hard, leading to disability and immobility.

Psevdogipertroficheskaya form of Duchenne.

Inherited recessive type, sex-linked.The most malignant myopathy.

begins most often in the first three years of life and less frequently from five to ten years.Ill boys.Symptoms begin with atrophy of the buttocks, the muscles of the pelvic girdle and thighs.Sooner appear psevdogipertrofii calf muscles.The process quickly captures all muscle groups.The child is difficult to get up from the floor, climb stairs, jump.With the progression he is bedridden.There are joint contractures and bone deformation.Perhaps the development of Cushing's syndrome - Cushing (obesity, endocrine rasstrotsstva).In some cases, there is mental retardation.In this form of heart muscle affected, the respiratory muscles.From pneumonia on a background of heart failure patients die.

Myopathy Becker.

Easy option myopathy linked to sex.

begins after 20 years.Manifested psevdogipertrofiey leg muscles (calf muscle).Slowly join atrophy of the pelvic girdle and thighs.Mental disorders there.

glenohumeral - facial shape Landuzi - Dejerine.

inherited in an autosomal - dominant type.Suffer both boys and girls.

developing the disease in the 10 - 20 years with atrophy and weakness of the facial muscles.Then, the process involved shoulder girdle muscles, shoulders, chest muscles, shoulder blades.

atrophy of the muscles of the back of the patient myopathy Landuzi - Dejerine well.

pelvic girdle is rarely affected.With the defeat of the circular muscles of the mouth the patient can not correctly pronounce the vowel sounds, whistle.Lips psevdogipertrofiruyutsya and look great.When atrophy orbicularis oculi muscle forehead becomes smooth, difficult closing of the eyes, patients sleep with their eyes open.Facial expression becomes poor (gipomimichnoy) - "myopathic face" the face "of the sphinx."Mental abilities are not affected.

flow slowly, patients can long maintain mobility and to perform all possible operation.The earlier the disease, the harder it over.In life, this form of myopathy is not significantly affected.

Other forms of myopathies are rare: oftalmoplegicheskaya (as the easy option of shoulder - front), distal (distal limbs are affected in 40 - 60 years of age and progresses very slowly).

there and myopathies - congenital - slowly progressing: the central rod myopathy, filamentous myopathy, Central - nuclear, mitochondrial myopathy with giant and progressive - myotonia Oppenheim (flaccid child).They differ by changes in the structure of muscle fibers, which are detected by histological examination under a microscope.The disease is deficiency of various metabolic enzymes.In patients with endocrine disorders are present, the liver and kidney, cardiac muscle, visual disturbances.

Treatment myopathies

Treatment - symptomatic ineffective.Pathogenetic treatment is developed, many institutions of various countries are conducting research on the genetic level - and using stem cells and cell culture ... but this is the future of medicine.

Symptomatic treatment is directed at the impact on metabolic processes, especially protein, normalizing the functions of the autonomic nervous system, improving neuro - muscle conductivity.Apply anabolic hormones (Nerobolum, retabolil, amino acids (glutamic acid, Cerebrolysin, tserakson, somazina), ATP, vitamin therapy (E, B, C, niacin), anticholinesterase drugs (Neostigmine, neuromidin). Use exercise therapy available and exercises in the pool, physiotherapy -elektroforez with neostigmine methylsulfate, neuromidin, nicotinic acid, muscle stimulation, gentle massage, ultrasound In some cases, orthopedic correction is shown -.. shoes, corsets

All patients seen by a neurologist with the assistance of a therapist, a cardiologist, orthopedist - traumatologist

.medical consultation on myopathy

Q: Do diet for myopathy need
Answer: yes, you need to eat more fresh fruits and vegetables, milk, cheese, eggs, oats, carrots, honey, nuts do not recommend coffee, tea., spices, alcohol, sugar, potatoes, cabbage

Question. Do myopathy treated with stem cells?
answer: developed these techniques, you can consult individually in the clinic stem cell Moscow

neurologist Kobzev Svetlana V.