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Quality of life people with muscular dystrophy at different stages of their lives
Krčilová, Radka ; Hájková, Vanda (advisor) ; Zakouřilová, Hana (referee)
Muscular dystrophy is a serious congenital disease that is currently incurable. There are many types of this disease, and one of its forms is Duchenne muscular dystrophy, which mainly affects boys and shortens their lives to a few decades. The absence of dystrophin in the muscles is manifested by the weakening of the muscles and their gradual loss. Boys soon lose the ability to walk and other momentum. At the same time, heart function, breathing, and bone quality are compromised. Such a life is not easy for a boy. Fatigue, lethargy, frustration come along with puberty. They have to get used to frequent medical examinations and checks, stretching exercises, various rehabilitations and stays in the spa. He needs to start asking for help and gradually asking for it more often and in many ways, eventually in almost all of them. Not only he needs psychological support, but also the caring family. The work seeks an answer to the question of what the quality of life with this disease can be, how it is experienced by the young person himself, and how it is seen by someone involved in the care. It describes this quality of life in different time periods gradually. Answers were also sought to the question of whether more could be done for the quality of life of these boys, e.g. through greater awareness of...
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The effect of DMD gene mutation on the growth and development of muscle tissue
Paliesková, Anna Mária ; Knytl, Martin (advisor) ; Haberlová, Jana (referee)
Duchenne muscular dystrophy is one of the most frequent and very severe congenital myopathies, affecting mainly boys. The disease is caused by a mutation in the gene encoding the dystrophin protein. The gene is located in the muscle tissue cells on the inner side of the sarcolemma. Dystrophin provides a link between the actin filaments and the extracellular matrix. It is important for the proper functioning of muscles during contraction and relaxation. As explained in this thesis, the production of dystrophin is of critical importance already at the muscle tissue development stage. The DMD gene expression also affects the expression of the other genes which play a key role in the right development and growth of muscle tissue. Mutations in the DMD gene cause changes in the signalling pathway genes such as PKA, thus affecting the expression control of other genes. Mdx mice used in DMD studies show abnormalities at prenatal stages, which are manifested through wrong organisation of microtubules and location of muscular cell nuclei, and a general increase in the number of fast myosin fibres (FMyHC). The absence of dystrophin also has an adverse effect on the satellite stem cells. The signalling pathway required for the correct spindle apparatus orientation is damaged. The wrong orientation causes the...
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