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The effect of current therapy on the quality of life of families of children with spinal muscular atrophy
Trnková, Eliška ; Jirkovský, Daniel (advisor) ; Vlachová, Marie (referee)
The bachelor thesis is focusedon with the infuence of current therapy on the quality of life of families of children with spinal muscular atrophy (SMA). The teoretical part of the thesis provides families a basic view of the issue of disease. The aim of the bachelor thesis was to assess posible changes in the perception of quality of life of children with SMA before and after the application of the medicinal product Spinraza. Individual dimensios of quality of life and categories of common daily activities were assesed. Methods: Quantitative research was carried out in the form of a questionnaire in threes neuromuscular centers and the patient oragnizations SMÁci. Athor's own questionnnaire the design rellies on a PedsQl touch screen (neuromuscular module). Research file concisted of 36 families of children with SMA (types I, II, III) treated with Spinraza. Results: Spinraza has the effect of improving some dimensions of quality of life and on daily activities. Of gross motor skills in 77,78 % of children.The overal respiration condition was improved in 44,44 %. Swallowing improved in 34,29 % of children, especiality in I. type. 16,64 % of families report their quality of live. Conclusion: Spinraza effetcts quality of life of families of children. A positiv sometimes significant, effect led to...
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Possibilities of using compensatory aids in children with spinal muscular atrophy
HRUBÁ, Michaela
Spinal muscular atrophy (SMA) is a genetically conditional, rare disease that causes muscle weakening. The disease starts to develop at an early age depending on the disease type. SMA manifests with gradual muscle weakening, when the muscle weakness is symmetrical and more occured in the area of the muscles of rather the cingulum membri inferioris than cingulum membri superioris. This disease limits children in everyday life, they are dependent on a wheelchair, on the help of another person when getting dressed, doing hygiene and gradually, they need help when doing every regular activity. The selection of suitable compensatory aids and targeted physiotherapy is very important in case of these patients. The main objective of the work is to map the possibilities and utilizations of compensatory aids in case of SMA patients and based on the kinesiological analyses, suggest suitable compensatory aids and find out the effectivity of the aids used. The theoretical part is focused on the disease description, its symptoms, diagnostics and treatment possibilities. Furthermore, in the theoretical part, I mention the most common musculoskeletal issues in SMA patients, the possibilities of rehabilitation treatment and compensatory aids, that are very important in case of SMA patients. The practical part is based on qualitative research, where the casuistries of four children with spinal muscular atrophy are processed. The research consists of a kinesiological analysis, anamnesis, the examination of aspects, palpations and a motor skill test was also done, (Hammersmith SMA-functional motor scale). Based on the examination, the effect of the so far used compensatory aids was evaluated. In the practical part, I was also finding out, in the form of an interview, information about compensatory aids. I was interested in the opinion of parents, on the availability and effectiveness of the aids and furthermore, I was interested in the specific aids children have been using or used.
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Physiotherapy for spinal muscular atrophy in childhood
Klečáková, Ivana ; Šebek, Milan (advisor) ; Tichá, Monika (referee)
BACHELOR THESIS ABSTRACT Jméno, příjmení: Ivana Klečáková Vedoucí práce: Ing. Milan Šebek Title: Physiotherapy for Spinal muscular atrophy in childhood Abstract: The work has a theoretical and practical part. The target of this work is to compile individual physiotherapeutic program for patients with Spinal Muscular Atrophy in childhood. The theoretical part deals with a general introduction to the issue of alpha motoneuron and its involvement with hereditary degenerative diseases. Section of the theoretical part is the anatomy and physiology related to this issue. Furthermore, the issues related to Spinal Muscular Atrophy - classification, clinical forms, clinical picture and course, pathogenesis and diagnostics, are elaborated. In the theoretical part I also deal with the current possibilities of rehabilitation and physiotherapy in such patients. This part is crucial for my work and knowledge from it is applied to the management of therapies, which are processed in the practical part of the work. This part deals with physiotherapeutic concepts and methods that are used in the Czech Republic and abroad - exercises on a neurophysiological basis, analytical and conditioning exercises, respiratory physiotherapy and the use of aids for therapy. The practical part of the work took place in cooperation with the...
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Minor forms of spinal muscular atrophy
Metelcová, Tereza ; Šolc, Roman (advisor) ; Daňková, Pavlína (referee)
Spinal muscular atrophy (SMA) is neuromuscular disorder. This disorder affects motor neurons in anterior horns of spinal cord and brainstem, and cause muscle weakness. Some forms of SMA may be cause by damage peripheral nerve. The most significant difference in the pathology of SMA emerging at the level of the spinal cord and peripheral nerves is deterioration of sensory ability. Decreased ability of sensation, due to damage to sensory nerves. Nowadays, it is known 29 forms of SMA, which differ genetically, age of onset of the disorder, severity of symptoms and life expectancy. Mutation of minor forms of SMA is very diverse. Mutated genes are located on 15 different chromosomes, including the X chromosome. Clinical symptoms of SMA is similar in most forms. Several forms has another symptom besides muscular weakness. Nowadays, it is not yet known genetic cause of all forms of SMA
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Spinal muscular atrophy
Bohatá, Jana ; Šolc, Roman (advisor) ; Brynychová, Iva (referee)
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder which affects α-motor neurons in anterior horns of spinal cord resulting in progressive muscle weakness. The estimated incidence is 1:10 000 and carrier frequency 1:40-1:60. SMA is classified into four grades depending on the age of onset and its severity. Life expectancy differs according to grade of SMA, patients suffering from the most serious grades live about two years, milder could live to adulthood. This disorder is caused by mutation of the SMN1 gene which is located on the fifth chromosome. In the majority of cases the type of mutation is homozygous deletion in SMN1 gene. Keywords: Spinal muscular atrophy; neuromuscular disorder; alpha motor neurons; autosomal recessive disorder; SMN1; SMN2
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Genetic and molecular basis of neurodegenerative and neuropsychiatric diseases
Jedličková, Ivana ; Kmoch, Stanislav (advisor) ; Fajkusová, Lenka (referee) ; Laššuthová, Petra (referee)
Next-generation (NGS) and third-generation (TGS) sequencing methods have played a key role in strategies of disease genes identification. Especially the exome sequencing increased the efficiency of causal variants identification up to tens of percent in study cohorts. Rare neurodegenerative diseases are clinically and genetically heterogeneous and show a broad differential diagnostics. NGS and TGS technologies have been crucial in our understanding of the pathomechanism of rare neurodegenerative diseases. NGS and TGS, used by research laboratories, have been essential for many patients to determine a correct diagnosis, provide genetic counselling and reach an adequate treatment. This thesis focuses on molecular mechanisms of selected rare neurodegenerative diseases, namely adult neuronal ceroid lipofuscinosis (ANCL), spinal muscular atrophy (SMA) and neuronal intranuclear inclusion disease (NIID). Modern DNA sequencing methods led to identification of causal lesions in ANCL suspect patients. We provide a concept of genetic testing for SMN1 negative SMA patients and present a method for validation of tandem repeat expansion in NIID. Key words: adult neuronal ceroid lipofuscinosis, spinal muscular atrophy, neuronal intranuclear inclusion disease, next-generation sequencing methods, DNAJC5
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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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