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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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Needs and Experience of Families with Child Suffering from Spinal Muscular Atrophy - Current Situation and Challenges for Social and Health Care System in Czech Republic
Schagererová, Iveta ; Štegmannová, Ingrid (advisor) ; Tichá, Růžena (referee)
Situation of families in which a child with spinal muscular atrophy was born, is the topic of this thesis. This rare genetic disease affects neuromuscular system of children and shortens their lives. In most severe cases the failure of respiratory functions comes in the first year of child's life. This thesis is focused on support that Czech system of social and medical services provides to families with this disease. Next, it looks into needs of these families and examine the extent to which the system is able to saturate them. Very important point in this research is also families' perception of quality of care. The research was implemented with use of qualitative methods, mostly by semi-structured interviews which followed families' journey through the system of social and medical services. Then there is a comparison of experience of families with theories, policy and other normative framework and suggestion of steps that should be taken to improve families' satisfaction with services they receive concerning the child's disease. Key words: spinal muscular atrophy, rare diseases, patient's autonomy, patient- centered care, patient journey, quality of care.
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Respiratory physiotherapy affects the quality of life of children with spinal muscular atrophy - How, when and why?
Havlištová, Michaela ; Smolíková, Libuše (advisor) ; Zounková, Irena (referee)
Bibliographic identification HAVLIŠTOVÁ, Michaela. Respiratory physiotherapy affects the quality of life of children with SMA - how, when and why? Prague: Charles University, 2nd Faculty of Medicine, Department of rehabilitation and sport medicine, 2012. 81 p. Supervisor Doc. PaedDr. Libuše Smolíková, Ph. D. Annotation This thesis deals with the influence respiratory function in children with spinal muscular atrophy (SMA). The theoretical part provides an overview of respiratory physiotherapy techniques that can be used in the care of the airways in people with SMA. The practical part deals with the question whether it is possible using the selected techniques of respiratory physiotherapy after six weeks of training to affect ventilatory parameters in children with SMA. The group of six probands with SMA I. - III. type in the range of the age from 3.5 to 12 years participated in this study. To objectively assess changes was performed spirometry efore the beginning of the therapy and after its conclusion. The main therapy was daily training with inspiratory breath simulator CliniFlo. After the finishing of therapy there was a positive change in all measured parameters except for vital capacity (VC) and maximal expiratory flow at 75% of FVC (MEF75), where the values didn't change. Statistically significant...
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Selected methods of therapeutic rehabilitation in spinal muscular atrophy
Nosková, Petra ; Ježková, Martina (advisor) ; Zounková, Irena (referee)
The bachelor's thesis "Selected methods of therapeutic rehabilitation in spinal muscular atrophy - a research paper" deals with the issue of a progressive neurodegenerative disorder in spinal muscular atrophy (SMA) with the focus on therapeutic rehabilitation. Due to the lack of causal treatment in the present time, therapeutic rehabilitation holds a crucial position. The main part of the thesis consists of a brief overview of the existing knowledge of the SMA disorder, the principles of prevention and therapy of the most frequent musculoskeletal difficulties of patients, as well as an overview of selected methods of therapeutic rehabilitation, appropriate in this disorder. The most frequent musculoskeletal difficulties of the SMA patients include: development of scoliosis, contractures and luxation of hip joint. In the overview of methods and concepts appropriate in patients with SMA, selected methods and concepts based predominantly on neurophysiologic principle and options for respiratory rehabilitation were listed. The thesis is supplemented with the casuistry of a patient with the third type of SMA.
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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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The role of pre-mRNA splicing in human hereditary diseases
Malinová, Anna ; Staněk, David (advisor) ; Vanáčová, Štěpánka (referee) ; Krásný, Libor (referee)
U5 small ribonucleoprotein particle (U5 snRNP) is a crucial component of the spliceosome, the complex responsible for pre-mRNA splicing. Despite the importance of U5 snRNP, not much is known about its biogenesis. When we depleted one of the core U5 components, protein PRPF8, the other U5-specific proteins do not associate with U5 snRNA and the incomplete U5 was accumulated in nuclear structures known as Cajal bodies. To further clarify the role of PRPF8 in U5 snRNP assembly, we studied PRPF8 mutations that cause an autosomal dominant retinal disorder, retinitis pigmentosa (RP). We prepared eight different PRPF8 variants carrying RP-associated mutations and expressed them stably in human cell culture. We showed that most mutations interfere with the assembly of snRNPs which consequently leads to reduced efficiency of splicing. The mutant PRPF8 together with EFTUD2 are stalled in the cytoplasm in a form of U5 snRNP assembly intermediate. Strikingly, we identified several chaperons including the HSP90/R2TP complex and ZNHIT2 as new PRPF8's interactors and potential U5 snRNP assembly factors. Our results further imply that these chaperons preferentially bind the unassembled U5 complexes and that HSP90 is required for stability of...
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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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