Myopathy: dangerous "inherited" from the related marriage

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  • Another's pain
  • Myopathy and its types


  • Another's pain

    Myopathy: dangerous "inherited" from the related marriage"We - the three brothers (31, 29 and 27 years) - from his youth suffer from one disease - progressive muscular dystrophy. All three of them - disabled. Maybe medical specialists will respond to our trouble and help. "

    "The child (10 years old), progressive muscular dystrophy. Doctors are powerless. I would be grateful for any recipes, tips. "

    "The grandson (3 years) suddenly began to refuse his feet and eventually become worse. Doctors put different diagnoses and can not do anything. Help the good advice. "

    It extracts from the letters of people, faced with a serious disease like myopathy. What is myopathy? Let's try to classify this multifaceted disease.


    Myopathy and its types

    Myopathies are neuromuscular groupdiseases that are manifested by fatigue, muscle weakness, decreased muscle tone, muscle atrophy. Myopathy, depending on the causative factor, divided into progressive hereditary muscular dystrophy, endocrine myopathy (a disease of the endocrine glands) and metabolic myopathy (a metabolic disorder).

    Talk about a progressive hereditarymuscular dystrophy. This type of myopathy characterized by muscle atrophy due to the destruction of muscle cells due to the lack of a special protein, which strengthens the structure of muscle fibers. This protein is produced under control of a special cellular gene, located on chromosome 6, the man and the gene defect occurs gradual destruction of muscle cell membranes with subsequent muscle fiber necrosis.
    This defective gene is inherited, ifin the family was a marriage between relatives. Changes in the gene in 30% of cases occur as a result of mutations, that is, in these cases, marriage between relatives - at anything. The disease is inherited with a probability of 50%, if one of the parents of the child is sick. It is associated with female sex chromosomes and transmitted, as a rule, his sons, although the woman may not be sick. Atrophy undergo shoulder girdle muscles arms, back, pelvis and legs.
    Depending on the localization of the disease, age,severity of the disease distinguish different forms of muscular dystrophy. So, youthful form of Erb-Rot occurs between the ages of 10-20 years, when there quietly atrophy muscles of the shoulder girdle and hands, and then - the pelvis and legs. During the walk the patient rolls over to the forward bulging belly and push back the chest. To get up from a prone position, the patient is turned to the side and, with his hands on hips, slowly raise your torso. The disease progresses slowly.
    Children form of Duchenne muscular dystrophyIt begins at the age of 3-5 years with the atrophy of the muscles of the pelvis, thighs, while thickening the lower leg calf muscle (false thickening). Gradually atrophied muscles of the shoulder girdle and arm. Children initially disturbed gait, and then there is difficulty in movement. Many broken heart rate by increasing the size of the heart. The progression of the disease or its malignant course in connection with the early limb immobilization leads to a sad end. Ill, mainly boys (1 in 3,000 births). To be more precise, the sick and the men and women equally. Only Duchenne disease manifests itself in boys. Girls are carriers of the gene.
    But sometimes for benign muscledystrophies (myodystrophy Becker), when the disease develops slowly, especially in the stunted children. For many years, they retain a satisfactory physical condition and only joining various acute diseases and injuries leads them to immobility, exhaustion with poor outcome.
    Provided of shoulder-facial shapemuscular dystrophy, Dejerine-called Landuzi, which may be between the ages of 6 to 52 years (usually 10-15 years) and is characterized by lesions of the facial muscles to the gradual subsequent atrophy of muscles of the shoulder girdle, trunk and extremities. Early signs of the disease are poorly ganging and unobscured eyelids completely ganging lip that creates a fuzzy speech and the inability to inflate the cheeks. The disease progresses slowly. For a long time, the patient can move around and maintain the ability to work, and then after 15-25 years, gradually atrophied leg muscles of the pelvic girdle, making it difficult to move.

    Provided it is also a group of secondary progressive muscular dystrophy, which arise in connection with damage to the nerves: neural, spinal muscular dystrophy, amyotrophy called yet.

    It concerns the neural amyotrophy of Charcot-Mariewhich is characterized by the progressive atrophy of the small muscles of the feet, then atrophied muscles of legs and underside of the thighs, and the muscles middle and upper parts of the thighs are not changed and the thigh is the shape of the bottle with the neck, inverted down. Then gradually atrophied muscles of the hands and forearms. Not affected muscles of the torso, shoulders and face. The disease occurs in the age 18-25 years, it progresses slowly and stabilized.

    Congenital spinal muscular atrophyKugelberg-Welander disease characterized by the progressive atrophy of the muscles in the arms, legs, delayed mental and physical development of the spine deformation. The disease manifests itself in the age of 8-10 years of age and progresses slowly.

    Progressive amyotrophy Aran-DuchenneIt begins at the age of 25-50 years and shows hands muscle atrophy. Then gradually atrophy remaining muscles of the arms, then the legs of the body, including intercostal muscles, causing respiratory disorders, from which death occurs.

    Congenital amyotonia (decreased muscle tone)Oppenheim is characterized by muscle weakness because of their immaturity, and muscular dystrophy them is secondary. In infants, it is not progressing, but getting respiratory infections can cause inflammation, and death occurs in the first year of life. With age, muscle motor function improved.

    muscular dystrophy Treatment is aimed atslowing the dystrophic (destroying) processes in the muscles and even their termination. However, radical cure has yet been found. While there is hope for gene therapy, which is slowly introduced into medical practice.

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