Muscular dystrophy: Causes, Types and Treatment
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Muscular dystrophy — a group of genetically determined diseases, leading to an unusual sensitivity of muscle fibers and factors damaging them. As a result — formed muscle fiber damage, their progressive weakening and loss of function. Most of them are progressive pathology. Muscular dystrophy cause progressive disability and immobilizing a person.
Causes Muscular dystrophy
The process of protecting muscles from injury and damage laid genetically. During that meet certain body proteins, which are produced by a team of specific genes. The process of formation of muscular dystrophy — a genetic defect in the synthesis of a particular type of protein needed for normal functioning of muscles.
Muscular dystrophy very much, and each of them is caused by the breakdown of a particular form of the gene for a particular protein. Mutations in these genes can be inherited from parents to children, and may result from disturbances in the early prenatal period.
More boys are at risk of having a family history of neuro-degenerative diseases and muscular. Muscular dystrophy can occur in children with multiple malformations.
Types Muscular dystrophy
By the time symptoms muscular dystrophy is:
- innate, the child is born with signs of progressive destruction of muscle,
- dystrophy in children, starting in early childhood, affecting mainly boys,
- dystrophy in adults, begins after the age of majority, or even in adulthood.
There are many different types of dystrophies, but some are more common than others and have more vivid and pronounced clinical symptoms, as well as engage in the process of respiration and circulation, some other organs.
Clinic Muscular dystrophy
There are the typical symptoms of muscular dystrophy — a progressive muscle weakness with inability to perform usual daily activities. Depending on the age of the modified form of the symptoms, the sequence of their occurrence and the loss of certain muscle groups.
Duchenne dystrophy occurs in half of all cases of dystrophy. Signs of it appear to the beginning of walking alone, it occurs more often in boys. For Duchenne dystrophy is characterized by the constant fall of the blue, difficulty getting up from a lying or sitting position, violation hopping function, running, learning difficulties and perevalivanie gait, a dramatic increase in the size of the calf muscles.
Becker dystrophy occurs is similar to the previous one, but the symptoms are not as pronounced. It develops slowly and progresses slowly. Symptoms occur after 16-20 years.
The progressive degeneration of Erba (limb girdle form) occurs after 15-16 years, appearing lesions of the pelvic muscles and the pelvic floor muscles on the legs with their weight loss and weakness. The process is then seamlessly transferred to the shoulder girdle, suffering abdominal muscles and back, there is a duck walk, difficult getting out of bed, pronounced spinal flexion.
These symptoms require immediate treatment to the doctor for treatment, as properly conducted therapy can significantly slow down for muscular dystrophy.
Diagnostics Muscular dystrophy
The basis of diagnosis — a description of the symptoms and the typical clinical picture of the disease with a change of tone and muscle strength, the size of individual groups of muscles — shoulders, calves, thighs. Complementing the research enzyme blood test for creatine kinase and its levels increase in the absence of explicit and extensive injuries.
Then conducted electromyography muscles relaxed and tension. To confirm the diagnosis requires a biopsy of muscle using a thick needle or cut. In addition, it is necessary to conduct a thorough study of the genetic identification of a specific gene mutation.
Treatment Muscular dystrophy
For a complete cure today with muscular dystrophy does not happen, but the current level of treatment can significantly slow down the course and progression of degeneration. The only complete cure method — a gene therapy and correction of gene defects, but it is still only developing.
Today, symptomatic treatment to reduce atrophy and contractures. Apply corticosteroid hormones that help delay the progression of muscular dystrophy, but medications have side effects. special exercises, mobile devices, and methods of ventilatory support is also used. Often used surgical therapies to alleviate contractures, correction of scoliosis and heart problems. You need to change your lifestyle and provide home care.
Prognosis is poor, sooner or later, the disease Muscular dystrophy progresses and leads to disability.