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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 Role of Occupational Therapy in Duchenne Muscular Dystrophy
Janatová, Adéla ; Rodová, Zuzana (advisor) ; Klimošová, Sylva (referee)
Author of bachelor thesis: Adéla Janatová Thesis supervisor: Bc. Zuzana Rodová, M.Sc. Title of bachelor thesis: The Role of Occupational Therapy in Duchenne Muscular Dystrophy Abstract of bachelor thesis: Duchenne Muscular Dystrophy is the most common childhood neuromuscular disease and is characterised by progressive symmetrical muscular weakness of the girdle and trunk muscles. This disease is linked to the X chromosome and therefore affects mostly males. This progressive muscular disease gradually leads to limited mobility and high dependence in activities of daily living. Boys with Duchenne Muscular Dystrophy need constant care based on a multidisciplinary approach. Around age 10, because of the progression of the disease, they lose the ability to walk independently and they become dependent on a wheelchair. In the second decade of their lives the weakness spreads to the upper limbs, their lung capacity decreases, and cardiac abnormalities begin to appear. Individuals with Duchenne Muscular Dystrophy have a life expectancy of about 35 years. The goal of this bachelor thesis is to describe the role of occupational therapy in Duchenne Muscular Dystrophy and to show its irreplaceability. The theoretical part of this bachelor thesis describes the general issues concerning the prevalence of the...
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Respiratory physiotherapy - part of a comprehensive treatment of Duchenne muscular dystrophy patients
Vargová, Zuzana ; Smolíková, Libuše (advisor) ; Slováčková, Lenka (referee)
Duchenne muscular dystrophy is a progressive muscular disease. This serious disease attacks not only the musculoskeletal system, but also the respiratory system. Respiratory system is one of the most influenced systems. The risks of respiratory problems increase with deteriorating condition of the patient due to muscle weakness. This work is focused on treatment of respiratory system. The aim of treatment is early prevention and solving of complications. These complications include not only scoliosis and cardial problems, but mainly inefficient cough, night hypoventilation, irregular night breathing and failure of respiratory system even during the day. The aim of the respiratory physiotherapy is to keep the right functionality of lungs for the longest time and to choose the correct method of the rehabilitation following the patient's condition deteriorating. Interventions suitable for the patients with the DMD are techniques that leads to increasing lung volume, manual and mechanical techniques of assisted coughing, and noninvasive ventilation. NIV is one of the preferred methods of treating nowadays. Another method is continual invasive ventilation and ventilation with tracheostomy. This treatment includes keeping hygiene of the airways, which is the basis for their throughput. The work also includes...
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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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Monitoring postural and respiratory function in patients with Duchennne muscular dystrophy
Vargová, Zuzana ; Smolíková, Libuše (advisor) ; Zounková, Irena (referee)
Duchenne muscular dystrophy is a progressive muscle disease that is still incurable. The disease affects all systems in the body and is therefore a need for a comprehensive approach. It manifests itself in childhood muscle weakness. Over time, there is a postural and respiratory changes affecting posture and the respiratory system. Depending on the changes of these functions leads to certain complications. Among these complications rank poorly stereotype walk, spinal deformities such as scoliosis, bad stereotype affect breathing, leading to vital lung function and many more. These complications are present in a particular time sequence and can be assigned to a specific patient age. This thesis is focused on the monitoring of postural and respiratory function in these patients. The work is the evaluation of these changes when they occur and in which the patient's age. Patients are rehabilitated life and physiotherapy is an integral part of treatment. It focuses possibilities of surgical treatment of scoliosis. The work also includes a questionnaire aimed at rehabilitation and physical therapy patients. Powered by TCPDF (www.tcpdf.org)
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Effect of physiotherapy and AFO extension verticalization in patients with Duchenne muscular dystrophy
Jánská, Anna ; Haberlová, Jana (advisor) ; Zounková, Irena (referee)
Our research is focused on using orthotic devices in patients with Duchenne muscular dystrophy (DMD), particularly in the ambulant phase of the disease. DMD is the most common hereditary muscle disorder in childhood. The typical symptoms are progressive muscle weakness and contractures that lead to loss of ability of independent walking, typically among the age of 9 to 13 years. The theoretical part is focused on pattern of standing and walking in these patients, the posibilities of useing the orthotic devices in various stages of the disease, and on the problems of contractures and deformities. The other teoretical part of the work is devoted to certain physiotherapy interventions and to associated physical activities. The practical part of the research is based on assesment of effect of physiotherapy and use of the nigt orthesis AFO (Ankle- Foot-Orthesis) in group of 10 DMD boys in the average age 9,1 ± 2,7 years. All boys were examined before and after 6 month of therapy. In examinations the following tests were used: NSAA (North Star Ambulatory Assessment), BI (Barthel index) measurements of muscle strength by hand held myometr and measurement of PROM (passive range of motion). The practical part also includes analysis of questionnaire datas from 19 patients with DMD collected in year 3/2013, questions...
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Respiratory physiotherapy - part of a comprehensive treatment of Duchenne muscular dystrophy patients
Vargová, Zuzana ; Smolíková, Libuše (advisor) ; Slováčková, Lenka (referee)
Duchenne muscular dystrophy is a progressive muscular disease. This serious disease attacks not only the musculoskeletal system, but also the respiratory system. Respiratory system is one of the most influenced systems. The risks of respiratory problems increase with deteriorating condition of the patient due to muscle weakness. This work is focused on treatment of respiratory system. The aim of treatment is early prevention and solving of complications. These complications include not only scoliosis and cardial problems, but mainly inefficient cough, night hypoventilation, irregular night breathing and failure of respiratory system even during the day. The aim of the respiratory physiotherapy is to keep the right functionality of lungs for the longest time and to choose the correct method of the rehabilitation following the patient's condition deteriorating. Interventions suitable for the patients with the DMD are techniques that leads to increasing lung volume, manual and mechanical techniques of assisted coughing, and noninvasive ventilation. NIV is one of the preferred methods of treating nowadays. Another method is continual invasive ventilation and ventilation with tracheostomy. This treatment includes keeping hygiene of the airways, which is the basis for their throughput. The work also includes...
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