What is and what is the danger of myopathy (myodystrophy, paralysis, paresis) of Dejerine suffer from landouzy Klumpke
Myopathy suffer from landouzy, of Dejerine is a hereditary muscular dystrophy, accompanied by progressive atrophy of muscle groups. Shoulder-front myodystrophy is inherited in an autosomal dominant and appears in age from 10 to 50 years. Most often the clinical symptoms of the disease are activated at the age of 20 years.
Symptoms and the pathogenesis of muscular dystrophy, suffer from landouzy of Dejerine
Myodystrophy suffer from landouzy, of Dejerine is manifested by the following symptoms:
- Hypotrophy and weakness of facial muscles and shoulder girdle;
- Wing-shaped blades, "transverse" smile, Sphinx-like face, the lip of the tapir;
- Progressive weight loss;
- Atrophy of the peroneal muscles and paresis of the proximal hand;
- Reduction of tendon reflexes (elbow, corporatelogo);
- a metabolic creatinine.
Muscular dystrophy develops due to a defect of the enzyme creatine phosphokinase, so the muscles cannot function fully. Muscle holds the energy of ATP, leading to atrophic changes.
According to the theory of "atrophic membranes", the condition is lost when the enzyme composition of myocytes, inhibiting their metabolism and contributes to the gradual loss of muscle fibers.
because of the peculiarities of hormonal status in women, the suffer from landouzy dystrophy occurs more frequently than men. This is due to the influence of estrogen on the metabolism of the myocytes.
Active physical activity increases the intensity of the symptoms of the disease, especially among representatives of a strong half of mankind.
Clinical symptoms of myopathy
Muscular dystrophy with genetic determinism begins to manifest in childhood. Under the influence of adverse factors (infection, intoxication, physical stress) initially, there is atrophy of certain groups of muscles of the hands and face.
Gradually atrophic process moves on to a new muscles of the extremities, which contributes to the paresis (violation of sensitivity) or paralysis (complete immobility).
The Course of the pathological process from the initial to the final stage may take several months or years.
The Extreme stage of the disease is paralysis of Dejerine Klumpke – lower (distal) Plex. It develops in lesions of the brachial plexus at the level of C7-Th8 (from cervical 7 to 8 thoracic vertebrae).
Neurological symptoms of paresis, Klumpke:
- aplastic Muscular dystrophy of the upper extremities;
- Reduction of tendon reflexes
- Inability to lift the arm horizontally;
- Increase in arm and hand
- Increased accumulation of connective and adipose tissue.
The Paralysis of Klumpke accompanied by full immobilization of the upper limbs. It is the end stage of a pathological process.
When combined with disorders of suffer from landouzy may encounter the following cases:
- the Juvenile form of ERB;
- Shoulder-facial type;
- pseudo-hypertrophy of Duchesne.
There are several rare varieties of disease allelic series of genes (different versions of one gene). In the presence of these genetic abnormalities in a human experience the following features of the disease:
- Slow development
- Long-term compensation with the maintenance of functionality;
- Disability in a few years;
- Severe with the existence of multiple forms of pathology.
Muscular dystrophy, suffer from landouzy-Dejerine characterized by pain in the muscles that occur when walking, perioral hyperesthesia (increased skin sensitivity) and giperbolicheskie changes stop. Of all the types of the condition, these symptoms are considered to be most favorable.
Paralysis of Klumpke – the most dangerous form of pathology. It can occur in the form of:
Easy and average degree of disease incidence is approximately equivalent. Severe stage of the disease appears in 5% of patients with muscular dystrophy. In women, the disease occurs more often in men but is more severe.
The Most intense symptoms occur at the age of 15-20 years and then they stop or even regress.
With the development of paralysis of Chlumce estimating upper limb, and the person becomes disabled.
Diagnosis of paralysis
It is Important to diagnose the paralysis of Klumpke in the initial stages, to prevent progression of diseases. Applied electromyography. With its help, identify primary patterns of muscular dystrophy with a decrease in the amplitude and force of contractions of myocytes.
In some cases, a genetic analysis, which is conducted after taking a piece of muscle tissue by biopsy (needle puncture) in areas of atrophy and necrotic changes of myocytes.
Histological examination will reveal the Central location of nuclei and vacuoles in pathological framed border. Morphologic study of cells can be observed increased activitylactate dehydrogenase, aldolase and creatine kinase, enzymes of myocytes.
Muscular dystrophy occurs with increased creatinine and amino acids in the urine. The paralysis is accompanied by increased content of leukocytes, blood, and other biochemical substances in the cerebrospinal fluid.
Myodystrophy occurs with progressive muscular weakness. From the initial stage of the disease to the point of paralysis may take several months or years. It depends on the type of inheritance, variability of clinical presentation, the extent of the lesion tissue, and genetic changes.
The success of the treatment of the disease greatly depends on the person: their lifestyle, nature of food, sleep and rest. Etiological treatment of the condition suffer from landouzy, of Dejerine Klumpke does not exist. It remains to count on future genetic technologies and developments in the field of molecular genetics.
It Should be understood that in the presence of diseases caused by atheroma, parents should refrain from birth more children because the risk of transmission of myopathy is quite high.