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Possibilities of respiratory therapy in children with spinal muscular atrophy
BRŮŽKOVÁ, Romana
Spinal muscular atrophy (SMA) is a rare, progressive, genetically conditioned disease that causes muscle wasting. Depending on its type, the disease can begin to appear at an early age. As the disease progresses, muscles of the whole body begin to weaken, causing the affected person to be bound to a wheelchair, forced to use various compensation tools and is dependent on the help of others. Very common complications of this disease are e.g. scoliosis, swelling of the limbs, contractures, and respiratory problems, to which need to be responded as soon as possible, as it is very serious complication and respiratory insufficiency in advanced stages may lead to death of the affected person. It is neccessary to strengthen breathing muscles, maintain lung volume by training and keep the airways clear and clean. The main goal of this thesis was to formulate the possibilites of respiratory therapy in children with the spinal muscular atrophy and to apply selected techniques of respiratory therapy and selected aiding tools along with the evalution of the effect. The theoretical part focuses on the description of the disease, its symptoms, diagnosis, and options of treatment such as pharmacotherapy, gene therapy, medical rehabilitation and respiratory therapy, which is crucial in children with spinal muscular atrophy. The practical part is based on qualitative research, where casuistries of three children with spinal muscular atrophy are processed. The research includes kinesiological analysis, muscular test, measurement of the chest circumference and spirometric examination. Based on this examination, a therapy plan was established. Lung function in all probands at the end of the therapy was approximately the same as at its beginning, which can be considered a positive effect of selected techniques due to the fact that SMA is a progressive disease.
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