Genetic diseases

Muscular dystrophy

Muscular Dystrophy

muscular dystrophy photos muscular dystrophy - a chronic disease of the skeletal muscles of the human body, which has a hereditary character.In this disease marked muscle weakness and degeneration.Most individuals with this pathology is not able to walk without the aid of a wheelchair, crutches.

There are several forms of muscular dystrophy flow, each of which is characterized by the time of its manifestations (symptoms of some types of muscular dystrophy is detected in childhood, others - discovered after majority).Against the background of muscular dystrophy may encounter problems with the respiratory, cardiovascular and other systems of the body.

Duchenne muscular dystrophy

This form of muscular dystrophy gets its name from the name of the scientist who first described it.

Duchenne muscular dystrophy - the most common disease among the various pathologies of the musculoskeletal system, the frequency of occurrence - 3.3: 10 000 (and the likelihood of this type of muscular dystrophy in boys

more than girls).Disease transmitted by recessive, X-linked.

first symptoms of muscular dystrophy in children are detected when the child begins to walk.They include: frequent falls and the difficulty in changing the position of the body waddle gait, increased calf muscle problem during running and jumping.

Muscular Dystrophy Duchenne makes itself felt as a child - from 3 to 5 years.Sick children gait changes, they go waddle.There have been frequent falls, with a show of hands up blades "waste" of the body ("wing-blades").At the age of 8-10 years old children move with difficulty, and in patients 12-13 years of completely immobilized in the future they can not do without a wheelchair.The development of the heart muscle weakness causes of death (the occurrence of heart failure, respiratory failure is possible, getting infection weakens the body).

first clear sign of Duchenne muscular dystrophy - seal the calf muscles.Then, their volume increases gradually due psevdogipertrofy that can develop in the deltoid, gluteal muscles.Subcutaneous fat layer hides muscle atrophy hips and pelvis.Later the affected muscles of the back, shoulders, upper extremity free (proximal parts).In the terminal stages of muscular dystrophy can be observed weakness of the respiratory muscles, muscles of the face and throat.

for progressive muscular dystrophy characterized by "duck walk", the presence of "wing-shaped blades," clearly marked lumbar lordosis, "free shoulder girdle."Often there early muscle contractures, are typical tendon retraction (in particular Achilles tendons).Fall knee reflexes, followed by the free upper limb reflexes.

In most cases the myocardium suffering muscular dystrophy type cardiomyopathies, ECG changes even at early stages of the disease.During the examination detected: changes in heart rate, heart sounds muffled with the expansion of its borders.Moreover, acute heart failure is usually the main cause of death in this disease.

With Duchenne muscular dystrophy characteristic symptom is the decline in the level of intelligence of the patient, with the changes in higher nervous activity are associated not only with the neglect of children in pedagogical terms (such children soon leave the children's groups, due to defects in locomotor system do not attend schools and kindergartens).The autopsy found a violation of the structure of the convolutions in the cerebral hemispheres of the brain, the cerebral cortex Cytoarchitectonics disrupted, noted hydrocephalus.

bright feature of Duchenne muscular dystrophy - a high degree of hyperenzymemia, which appears in the early stages of the disease.The level of creatine kinase (an enzyme specific muscle tissue) in the blood increases in the tens or even hundreds of times the usual indicators.There is also an increased content of aldolases, lactate dehydrogenase and other enzymes.

Muscular dystrophy causes

encoded amino acid sequence, which later becomes the "building blocks" for proteins that protect the muscle fibers involved a large number of genes.The defective state of one of these genes, and causes the development of muscular dystrophy.Each form of the disease is the result of a genetic mutation that determines to which type is this muscular dystrophy.Most of these mutations - hereditary.However, some of them arise spontaneously in the mother's egg cell, or already developing embryo.

Despite the fact that most of the muscular dystrophies has been described in detail in the late twentieth century and the good investigated clinically questions regarding pathogenesis, still remain unanswered.Lack of reliable data the primary biochemical defect does not allow to deduce any single classification of muscular dystrophies.Routine basis in the existing classifications of the disease - the type of inheritance or clinical principle.

Thus, according to the classification proposed by Walton (1974), are the following forms of muscular dystrophy: Clutch X-linked, autosomal recessive, face-Shoulder, distal, ocular, okulofaringealnaya.The last of these forms have an autosomal dominant pattern of inheritance.Thus, Duchenne muscular dystrophy and Becker are transmitted only the male sex (due to entanglement with the X chromosome), in turn, of shoulder-facial, limb-lumbar muscular dystrophy have no connection with the floor, so the probability of receiving the defective gene haveboth men and women.

It should be noted that the diagnosis of a disease, such as muscular dystrophy, is often a time consuming process due to the high variability of the clinical picture and the small number of children in the family (this complicates the determination of the type of inheritance).

Muscular Dystrophy Symptoms

main symptom of muscular dystrophy of any type - muscle weakness.With age, each of the forms of muscular dystrophy is modified, changed the sequence of defeat muscle groups of the patient.

Duchenne muscular dystrophy appears to 5 years of age, it is characterized by malignant course, after 12 years of a child is no longer able to move independently.The first symptom of muscular dystrophy in children is a thickening of the calf muscles.In addition, marked respiratory failure, cardiomyopathy, IQ lowered.

Becker muscular dystrophy can be detected in childhood and after age.Notes: the gradual loss of pelvic muscles, shoulder girdle preserving walking ability after 15 years.After the age of 40 comes respiratory failure, cardiomyopathy possible.Generally, people with this form of muscular dystrophy are able to keep working for a long time, only comorbidity of various systems and organs of the patients are forced to link their lives with a wheelchair.

myotonic dystrophy may begin at any age, absolutely.There is slowly progressive muscular dystrophy, neck, face, eyelids, the free limbs.The possibility of defeat in the conductivity of the cardiac muscle, mental disorders.Cataract, atrophy of the gonads, frontal alopecia.

of shoulder-facial dystrophy is usually diagnosed before the 20 years.It is characterized by: slowly growing weakness of the facial muscles, shoulders, back flexor foot is affected, there are hypertension and hearing loss.In the early stages the patient is not able to completely close his eyelids, lips (hence problems with speech, inability to inflate the cheeks), facial expression is different from that of healthy people.

Muscular Dystrophy Treatment

In modern medicine, there is still no means by which it is possible to stop the process of muscle atrophy.The main methods used in the treatment of muscular dystrophy, aimed at preserving the mobility of the various parts of the patient's body for as much as possible.In other words, early treatment slows muscle atrophy, without eliminating it.

If there are suspicions about the presence of muscular dystrophy in child should see a doctor.On examination, the child and parents poll doctor can predict the disease in the child (if the family had already been cases).If there are no relatives of the child with muscular dystrophy, it is assigned electromyography, which allows to evaluate the function of the nerves in the muscles, to detect the presence of muscular dystrophy.Muscle biopsy is also used as a method for diagnosing muscular dystrophy.

treatment of muscular dystrophy based on slowing the processes of atrophy in the muscles.For this purpose: vitamin B1, vitamin E, blood transfusion, amino acids (leucine, glutamic acid), an intramuscular injection of ATP certain nutraceuticals, corticosteroids, nicotinic acid.Folk medicine advises using overgrown grains of wheat, rye, grass, knotweed, horsetail, ginseng, royal jelly, the rhizome of Jerusalem artichoke.

The term is considered a transplant patient his own stem cells taken from bone marrow or skeletal muscle.However, genetic engineering is not yet able to achieve a positive result, as highlighted by scientists dystrophin gene can be artificially introduced into muscle cells, where it is a defective copy.

for the treatment of muscular dystrophy using certain types of therapies that improve the quality of life of the patient and in some cases its duration:

- Physical therapy.It aims to ensure the greatest possible mobility.It allows you to preserve their flexibility and mobility;

- Massage Therapy to maintain muscle tone and improve blood circulation in the affected area;

- Appointment of vasodilator drugs.Combined with physiotherapy, oxygen therapy, balneotherapy;

- Mobile devices.Various braces support weakened muscles, holding them in a stretched state, retain the flexibility of muscles, which slows the progression of contractures.Walkers, canes, wheelchairs help patients maintain mobility, to be independent;

- Auxiliary breathing (use of special devices, improving the supply of oxygen to the patient during sleep due to the weakening of the respiratory muscles).For some patients, this is not enough, so use special devices that force oxygen into the lungs;

- The use of orthopedic devices that strengthens the "hanging" of the foot and stabilizes the ankle joints, decreases the incidence of falls;

- Appointment of anabolic hormones.We accept these funds short courses (eg Retabolil - 1 time per week, the course consists of 5-6 injections), together with blood transfusion (100 ml);

- If you have pronounced symptoms of myotonic appointed course phenytoin (0.03-0.05 g 3 times a day, the rate of application - approximately 2.5 weeks) in order to reduce post-tetanic activity in muscle tissue.

surgical intervention for the treatment of muscular dystrophy is possible with:

- the presence of contractures.The operation on the tendons weakens contractions;

- scoliosis.In this case, surgery is used to correct curvature of the spine, difficulty breathing;

- heart problems.To ensure a more rhythmic contractions of the heart pacemaker is introduced.

If family history of muscular dystrophy, it is necessary to carry out medical and genetic counseling in order to determine the possible detection of the disease in the next generation.

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