Contextualização - A distrofia muscular de cinturas tipo 2A ou calpainopatia é uma desordem causada pelas mutações no gene CAPN3 (15q15.1) que codifica a calpaína. Entender como ocorre a perda de força muscular, da mobilidade articular e suas relações com a função nestes pacientes pode auxiliar na melhor compreensão da evolução da doença e indicar os biomarcadores pertinentes para o acompanhamento desta doença. Objetivo - Descrever e correlacionar a força muscular, a amplitude de movimentos articulares (ADM) e a função de um grupo de pacientes brasileiros com distrofia muscular de cinturas tipo 2A (calpainopatia). Método - Trata-se de um estudo transversal. A população estudada foi composta por 50 pacientes acompanhados no Centro de Pesquisa sobre o Genoma Humano e Células Tronco (CEGH-CEL) do Instituto de Biociências da Universidade de São Paulo, São Paulo, Brasil. Foram coletados os dados de força muscular (Medical Research Council - MRC), amplitude de movimento, escala de Vignos, escala de Medida de Independência Funcional (MIF), teste de caminhada de 10 metros (TC10m) e Escala Egen Klassifikation (EK). Para análise de correlação entre a força muscular e função foram utilizados os testes de correlação de Pearson e de Spearman. Resultados - Houve correlação positiva forte entre o índice de força muscular de cotovelo e o escore da Escala de Medida de independência funcional total (MIFT) (rho=0.70) e correlação negativa forte entre a Escala de Vignos e escore da MIFT (rho= -0.90). No teste de caminhada de 10 metros, a média do tempo utilizado pelos participantes foi de 17.82 segundos. Os resultados mostraram correlação negativa moderada entre o escore da escala EK e o índice de força muscular (MRC) dos segmentos corporais do cotovelo (rho= -0.51) e punho (r= -0.40) para o subgrupo cadeirantes. A amplitude de movimento não é um biomarcador pertinente para o acompanhamento da doença, pois não apresentou correlação com as demais variáveis deste estudo. A maioria dos pacientes apresentou limitações articulares na região de joelho e tornozelo, condizentes com outras pesquisas. A comparação da força muscular entre os músculos extensores dos joelhos direito e esquerdo mostrou diferença significativa (p < 0.02). Conclusão - Amostra brasileira apresentou incidência similar com os países do continente europeu (32%). Os escores de força muscular mostraram correlação com a função motora. Nossos achados permitem determinar, com melhor embasamento, os biomarcadores funcionais força muscular e função como os mais indicados na prática clínica e de pesquisa / Contextualization - Limb-girdle muscular dystrophy type 2A or calpainopathy is a disorder caused by mutation in the CAPN3 gene (15q15.1) that codes for calpain. Understanding how loss of muscular strength, joint mobility and their relationship with the function in these patients can help in better understanding the evolution of the disease and indicate the biomarkers pertinent to the follow-up of this disease. Objective - To describe and correlate muscle strength, range of joint movements (ROM) and function of a group of Brazilian patients with limb-girdle muscular dystrophy type 2A (calpainopathy). Method - This is a cross-sectional study. The studied population was composed for 50 patients at the Center for the Study of the Human Genome (CSHG) of the Institute of Biosciences of the University of São Paulo, São Paulo, Brazil. The data recorded were muscle strength (Medical Research Council - MRC), range of motion, Vignos scale, Functional Independence Measure (FIM), 10-meter walk test and Egen Klassifikation scale (EK). Para análise de correlação entre a força muscular e função foram utilizados os testes de correlação de Pearson e de Spearman. Results - There was a strong positive correlation between MRC and FIM (rho=0.70) and negative correlation between the Vignos Scale and FIM (rho= -0.90). The 10-meter walk test, the mean time used by participants was 17.82 seconds. The results showed a moderate negative correlation between the EK scale score and the MRC of the elbow (rho = -0.51) and wrist (r = -0.40) for the wheelchair subgroup. The range of motion is not a biomarker pertinent to the disease follow-up, since it did not present a correlation with the other variables of this study. The patients had contractures around the knee and ankle, is in keeping with what other studies. The comparison of muscle strength between the extensor muscles of the right and left knees showed a significant difference (p < 0.02). Conclusion - Brazilian sample had an incidence similar with the countries of the European continent (32%). The scores of muscle strength and motor function showed correlation. Our findings allow us to determine, with better foundation, functional biomarkers muscle strength and function as the most indicated in clinical practice and research

Introdução: As disferlinopatias são doenças genéticas causadas por alterações no gene da disferlina (DYSF), também denominadas distrofia muscular de cinturas (DMC) do tipo 2B, sendo a segunda em frequência em diversos países. A determinação de biomarcadores de função muscular desta doença se faz necessária. Objetivo: Estudo de caracterização da força e da função muscular nas disferlinopatias para estabelecer biomarcadores de habilidades motoras. Método: Amostra de 40 pacientes com dados de prontuário de força muscular (Medical Research Council - MRC), índice MRC, tempo de deambulação de 10 metros e, escalas de Vignos, Egen Klassifikation, Avaliação Funcional para distrofia muscular de Duchenne (FES-DMD) e North Star Ambulatory Assessment adaptada (a-NSAA). Resultados: Prevalência da disferlinopatia de 25,5% no Centro de Pesquisa sobre o Genoma Humano e Células Tronco, idade média de 36,5 anos, 52,5% do sexo masculino e 75% deambuladores. Músculos mais acometidos: abdominal, glúteo, íliopsoas, isquiotibial, quadríceps femoral, tibial anterior e deltoide médio. Correlação forte entre MRC e tempo de deambulação de 10 metros (média r=0,77) e, muito forte da MRC distal dos MMII com a-NSAA (r=0,90). Interação da MRC dos membros superiores (MMSS) e membros inferiores (MMII) entre os segmentos proximal e distal (p < 0,001), sendo mais evidente em MMSS do que em MMII. Taxa variável de progressão da doença, com 60% dos pacientes moderadamente ou gravemente afetados com menos de 12 anos de doença. Conclusão: Os achados caracterizam o padrão de fraqueza muscular dos brasileiros com disferlinopatia como proximal e distal dos MMII, com comprometimento associado da região proximal dos MMSS, além de elucidar as habilidades motoras em relação ao processo de locomoção. A forte correlação encontrada entre a força muscular, o tempo de deambulação de 10 metros e a escala a-NSAA, associada ao acompanhamento da evolução do desempenho de alguns grupos músculos podem fornecer um biomarcador adequado para o estudo da doençaCharacterization of muscle strength and function in Brazilian subjects with dysferlinopathy / Introduction: Dysferlinopathies are genetic diseases, caused to changes in the disferlina gene (DYSF), also named limb-girdle dystrophy type 2B, that is the second one in frequency in several countries. The small number of biomarkers of functional performance researches brings the need for studies in this area. Objective: This study characterizes muscle strength and function in subjects with dysferlinopathy to establish biomarkers of motor skills. Method: Data were available from 40 patients and included muscle strength assessment using the Medical Research Council (MRC) power scale, MRC index, timed motor performances for walking and data from the Vignos, Egen Klassifikation, Functional Assessment for Duchenne muscular dystrophy (FES-DMD) and the adapted North Star Ambulatory Assessment (a-NSAA) scales. Results: The prevalence of dysferlinopathy was 25.5% in the Centre for the Study of the Human Genome and Stem Cells (CEGH-CEL), the mean cohort age was 36.5 years, 52.5% were males and 75% were walkers. The weaker muscle found were the abdominal, gluteus, iliopsoas, hamstrings, quadriceps femoris, tibialis anterior and medial deltoid. Strong correlations were observed between the MRC power score and walking time (r = 0.77) and very strong between the MRC distal lower limb power score and a-NSAA (r = 0.90). Interactions of MRC scores were observed between the upper and lower limbs and the proximal and distal regions (p < 0.001) but were more evident in the upper limbs. The disease progression rates were variable with 60% of patients moderately or severely affected after more than 12 years since diagnosis. Conclusion: These findings suggest the pattern of muscular weakness in Brazilians with dysferlinopathy is predominantly in the lower limbs (proximal and distal) with associated involvement of the proximal upper limbs and elucidates the motor abilities in relation to locomotion. Due to the strong correlation with muscle strength, the walking time and the a-NSAA scale, in association with monitoring the evolution of the performance of some specific muscles can provide a suitable biomarker for the study of the disease

Submitted in partial compliance with the requirements fo the Master's Degree in Technology: Chiropractic, Durban University of Technology, Durban, South Africa, 2017. / Background Competitive swimming, as with most other sports that are participated in at more than a recreational level, involves a substantial amount of training. Training excessively results in the overuse of muscles. The overuse of muscles commonly causes the production of myofascial trigger points (MFTPs) within the overworked muscles. The presence of MFTPs is a condition known as myofascial pain syndrome (MPS). Myofascial trigger points may be active or latent. Either way, they produce a wide range of effects. This study focuses on the effect of reduced muscle strength. Muscle strength is essential to athletes as it determines performance. Swimmers with MFTPs will not perform at their full ability. Dry needling is an effective form of treatment for MFTPs as it produces immediate relief from the effects of MFTPs. There is not enough information on the immediate effects of dry needling on athlete performance. Since dry needling brings about the immediate relief of MFTPs, this study aims to restore a swimmer’s muscle power and hence improvement of their swimming performance post-intervention. Aim The aim of this study was to determine the immediate effect of dry needling common myofascial trigger points (MFTP) found in four muscles of the shoulder girdle on competitive swimmers’ 100m freestyle lap-times. Methods The design was a pre-test post-test quasi-experimental study. Thirty five competitive swimmers between the ages of 16 and 30 years old participated in this study. Each participant underwent one assessment. Participants’ lap-times were taken using a Sportline Econosport Stopwatch. The pre- and post-intervention lap-times were compared to each other using statistical analysis. The intervention for the purpose of the study was trigger point dry needling. Myofascial trigger points were assessed using manual palpation and the Myofascial Diagnostic Scale (MDS). Results The median lap time was slightly longer post intervention (0:01:16.10) than pre-intervention (0:01:16.03), and was highly statistically significant (p=0.001). The results of the study were inconclusive, however, as there were too many confounding variables (for example, fatigue due to repeatedly swimming laps, swimmers of a lower caliber and hence quicker fatigue rate being included in the study)which negated the effect of dry needling and so the poorer performance of the participants post-intervention could not be attributed entirely to the intervention. A small number of participant’s lap-times decreased post-intervention i.e. they performed better post-intervention. These individualswere predominantly sprint-swimmers. Conclusion Dry needling negatively affects immediate lap-time performance. Future studies should reduce the number of variables affecting the study, for example, having a sprinter versus long-distance swimmer group, testing the outcome of dry needling after the swimmer has had sufficient time (for example, a day) to rest post-intervention. / M

Les dystrophies musculaires des ceintures (LGMD) sont un groupe hétérogène de dystrophies musculaires à progression lente. Des mutations du gène de la dysferline causent la LGMD de type 2B, mutations dans le gène de la cavéoline-3 (cav-3) causent LGMD de type 1C et des mutations dans le gène anoctamine-5 (ano-5) sont liées aux LGMD. Dans le but d'analyser les mécanismes moléculaires des LGMD et d'étudier les potentielles interactions de la dysferline, de la cav-3 et de l'ano5, des expériences sur des cellules musculaires primaires portant des mutations associées aux gènes DYSF, CAV3 et ANO5 ont été analysées. Les études d'immunomarquage ont montré que la protéine dysferline et la cav-3 sont partiellement colocalisées dans des structures vésiculaires de la membrane plasmique des myotubes primaires humains. La purification biochimique des "detergent-resistant membranes" issus des myotubes différenciés a montré que la dysferline est associée aux " lipid raft " liées aux cytosquelettes d'actine. L'analyse de la microscopie électronique sur les myotubes issus des muscles des patients atteints de LGMD a montré des altérations dans l'abondance des cavéoles à la membrane plasmique qui est en corrélation avec les mutations causant la maladie. L'analyse de l'ultrastructure cellulaire a montré que la dysferline est localisée à la membrane plasmique mais également dans des vésicules cytosoliques. L'immunopurification de ces vésicules contenant de la dysferline a révélé la présence d'environ 500 protéines détectées par LC-MS, ce qui pourrait représenter des protéines structurales vésiculaires, ainsi que des nouveaux partenaires potentiels d'interaction de la dysferline. / Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of slowly progressive muscular dystrophies with common features such as hyperCKemia and skeletal muscle weakness. Mutations in the dysferlin gene cause LGMD 2B, in the caveolin-3 (cav-3) gene LGMD 1C and in the anoctamin-5 (ano-5) gene LGMD 2L, respectively. In order to reveal the molecular mechanisms underlying LGMD and to investigate the putative interactions of dysferlin, cav-3, and ano5, primary skeletal muscle cell lines with disease-related mutations in DYSF, CAV3, and ANO5 have been analyzed. Immunolabeling studies revealed that dysferlin and cav-3 are partially colocalized in vesicular structures at the plasma membrane. Biochemical purification of detergent-resistant membranes from differentiated myotubes showed that dysferlin is associated with lipid rafts linked to the actin-cytoskeleton. Transmission electron microscopy analysis of myotubes revealed alterations of caveolae abundance at the plasma membrane correlating with disease-causing mutations. Ultrastructural studies revealed localization of dysferlin at the plasma membrane, but also in cytosolic vesicles. These vesicles contained a subset of approximately 500 proteins detected by LC-MS, which might represent vesicular structural proteins, vesicle cargo, and putative new dysferlin interaction partners. Results from this study lead to the conclusion that caveolae play a crucial role in the context of LGMD. Dysferlin and cav-3 seem to be closely linked on structural as well as on functional level. Our results confirm that dysferlin is localized in cytosolic vesicles, which are involved in multiple cellular processes.

Title: Corrected arm hang as a compensatory element in physioterapy Objective: The main objective of this master thesis is to measure and compare the level of engagement of muscles stabilizing the scapula during arm hang and supported exercise. Methods: Our study included nine probands whose measurement results were evaluated quantitatively. The age of probands at the time of measurement was from 18 to 25 years. A condition for inclusion in the investigated group was absence of subjective symptoms, functional impairment, traumatic injury, orthopedic defects or diseases of the upper limb. All probands were active athletes. Biomonitor ME 6000 manufacturer Mega Electronics Ltd. was used for recording the electrical activity of the muscles. The obtained data were processed by the Megawin software. All measurements for the purposes of the study took place in the laboratory of biomechanics FTVS UK. The resulting data were compared intraindividual and interindividual. Results: The results demonstrated that middle and lower portions of m. Trapezius is more active in the corrected arm hang. In contrast, the supported exercise leads to greater activity of m. Serratus anterior and lower activity of upper portion of m. Trapezius. Keywords: arm hang, supported exercise, surface electromyography, stabilization...

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Bakgrund: Bäckensmärta är en vanlig problematik under graviditet och postpartum. Uppkomsten av problematiken beror på de olika förändringar kvinnans kropp genomgår under graviditeten. Det finns ett antal olika tester som en fysioterapeut kan utföra för att diagnostisera smärtan, såsom P4-test, Patrick´s, FABER, Gaenslens´s test, distraktions test, sidliggande kompression, sacrum tryck och modifierad Trendelenburg´s test. Sedan finns det olika behandlingsalternativ såsom akupunktur, TENS, manipulationer, mobilisering, bäckenbälte och olika träningsformer men det finns inte en stark evidens kring alla dessa. Den kunskap som lärs ut under grundutbildningen ger inte mycket redskap för hur en fysioterapeut ska arbeta med graviditetsrelaterad bäckensmärta. Syfte: Syftet med studien är att beskriva kunskaper och erfarenheter från fysioterapeuter inom kvinnohälsa med kompetens att behandla patienter med graviditetsrelaterad bäckensmärta under graviditet och postpartum Metod: En kvalitativ intervjustudie där fyra fysioterapeuter som arbetar inom kvinnohälsa intervjuades. Insamlad data analyserades enligt kvalitativ innehållsanalys. Resultat: Dataanalysen resulterade i fyra kategorier, grundutbildningen ger basal kunskap, vidareutbildningar fördjupar kunskapen, beprövad erfarenhet prioriteras i mötet med patienten, fysioterapeutens undersökning och behandling av bäckensmärta. Konklusion: Grundutbildningen i fysioterapi upplevdes ge basala kunskaper men sakna djupare kunskap angående kvinnohälsa och graviditetsrelaterad bäckensmärta. Vidareutbildningar inom kvinnohälsa var till stor nytta för att ge god vård åt patienter med bäckensmärta under och efter graviditet. Det upplevdes viktigt att beakta patientens helhetssituation, utifrån ett biopsykosocialt förhållningssätt, ta en noggrann anamnes och kunna bemöta patienten empatiskt. Fysioterapeuterna upplevde det viktigt att ge råd om att tänka på att sköta om sin hälsa och få egen tid. Den fysioterapeutiska undersökningen av graviditetsrelaterad bäckensmärta bör innehålla ett P4-test, ASLR, modifierat trendelenburg och palpation runt bäckenet. I behandlingen bör patienten få ett individuellt träningsprogram med bålstabiliserande övningar för att stärka glutealmuskulaturen. Akupunktur kan vara relevant som smärtstillande behandling. / Background: Pelvic pain is a common problem during pregnancy and postpartum. The emergence of the problem is due to the various changes the woman's body undergoes during pregnancy. There are a number of different tests that a physiotherapist can perform to diagnose the pain, such as the P4 test, Patrick's, FABER's, Gaenslen's test, distraction test, lateral compression, sacrum pressure and modified Trendelenburg's test. Then there are various treatment options such as acupuncture, TENS, manipulations, mobilization, pelvic girdle belt and various forms of exercise, but there are not strong evidence around all of these. The knowledge taught during basic education does not provide much tools for how a physiotherapist should work with pregnancy-related pelvic pain. Aim: The aim of this study was to describe the knowledge and experience of physiotherapists in women's health with competence to treat patients with pregnancy-related pelvic girdle pain during pregnancy and postpartum. Method: A qualitative interview study where four physiotherapists working in women's health were interviewed. Collected data was analyzed according to qualitative content analysis. Results: The data analysis resulted in four categories, the basic training provides basic knowledge, further education deepens the knowledge, proven experience is prioritized in meeting with the patient, the physiotherapist's examination and treatment of pelvic pain. Conclusion: The basic education in physiotherapy was perceived to provide basic knowledge but lack deeper knowledge regarding women's health and pregnancy-related pelvic pain. Further education in women's health was of great benefit in providing good care to patients with pelvic pain during and after pregnancy. It is important to consider the patient's overall situation, based on a biopsychosocial approach, take a careful history and be able to treat the patient empathetically. The physiotherapists felt it was important to give advice on thinking about taking care of oneself and having personal time. The physiotherapeutic examination of pregnancy-related pelvic pain should include a P4 test, ASLR, modified Trendelenburg and palpation around the pelvis. The patient should receive an individual training program with posterior stabilizing exercises to strengthen the gluteal muscles. Acupuncture can be relevant as a pain-relieving treatment.

INTRODUÇÃO: As distrofias musculares progressivas e a amiotrofia espinhal progressiva (AEP) são doenças neuromusculares (DNM) caracterizadas pela degeneração irreversível das fibras musculares, a qual leva à fraqueza muscular e à incapacidade motora. Qualidade de Vida Relacionada à Saúde (QVRS) inclui subjetividade, multidimensionalidade, aspectos negativos e positivos diante da percepção e da expectativa individual de vida; sofre influência cultural. JUSTIFICATIVA: A avaliação da QVRS é essencial para definir a resposta ao tratamento multidisciplinar ou efetivo do paciente com DNM e para sinalizar medidas destinadas a incrementar o sucesso terapêutico. OBJETIVOS: Validar os questionários Life Satisfaction Índex for Adolescents (LSI-A) versão pais e versão paciente e Pediatric Quality of Life Inventory Duchenne (PedsQL DMD) versão pais e versão paciente para o português; avaliar a QVRS dos pacientes com distrofia muscular de Duchenne (DMD), amiotrofia espinhal progressiva (AEP) ou distrofia muscular de cinturas (DMC); avaliar a QV familiar e da mãe/cuidadora. METODOLOGIA: Os questionários LSI-A e PedsQL DMD foram validados obedecendo às etapas de adaptação cultural e validação. Após validação, o questionário LSI-A foi aplicado a pacientes com DMD, AEP ou DMC; o PedsQL Duchenne foi aplicado aos pacientes com DMD e o PedsQL NM a pacientes com AEP ou DMC. Os pais dos pacientes responderam ao FQoL e as mães/cuidadoras ao WHOQOL-Bref. Para cálculo estatístico utilizaram-se: testes alfa de Cronbach, CIC, Pearson, Curva ROC para a validação, e Mann Whitney, Friedman e Dunn para a aplicação. RESULTADOS: Quanto à validação: Probe final do LSI-A versão pais, 97% e versão paciente, 95%; PesdQL DMD versão pais, 99% e versão paciente, 97%, sinalizando compreensão excelente; o teste ? de Cronbach no LSI-A versão pais e paciente, respectivamente, obteve escore geral 0.87 e 0.89; no PesdsQL versão pais e versão paciente, respectivamente, escore geral 0.87 e 0.84. Em ambos foi evidenciado alta confiabilidade dos itens. Quanto à aplicação do LSI-A versão pais e pacientes para avaliação da QVRS, quando comparada aos controles, houve maior número de domínios significantes em pacientes com DMD, AEP ou DMC, nesta ordem. A QVRS mediante aplicação do questionário PedsQL módulo DMD e NM obedeceu a esta mesma sequência. CONCLUSÕES: Conforme os dados psicométricos, os questionários são válidos para serem aplicados a pacientes com DNM e respectivos pais, como segue: LSI-A versão pais e versão paciente a pacientes com DMD, AEP e DMC e respectivos pais, e PedsQL 3.0 Duchenne versão pais e paciente a pacientes com DMD e respectivos pais. A QVRS apresentou-se mais satisfatória nos pacientes com DMC, seguidos pelos pacientes com AEP tipo II e III e, por último, pelos pacientes com DMD. A QV da família apresentou-se reduzida quanto aos aspectos relativos ao bem estar material, particularmente no caso das famílias dos pacientes com DMD. A QV das mães/cuidadoras, decresceu conforme o aumento da idade dos pacientes, quanto aos aspectos psicológicos, sociais e ambientais, em especial a das mães/cuidadoras dos pacientes com AEP / INTRODUCTION: Progressive muscular dystrophies and spinal muscular atrophy (SMA) are neuromuscular diseases (NMD) characterized by irreversible degeneration of muscle fibers which leads to muscle weakness and motor disability. Health-related quality of life (HRQoL) includes subjectivity, multidimensionality, negative and positive aspects on the perception and individual life expectancy; in addition, it suffers cultural influences. BACKGROUND: The assessment of HRQoL is essential to define the response to the multidisciplinary or effective treatment of patients with NMD and to indicate measures to increase the therapeutic success. OBJECTIVES: to validate to the Portuguese the following HRQoL instruments for patients with NMD: Life Satisfaction Index for Adolescents (LSI-A) and Pediatric Quality of Life Inventory Duchenne (PedsQL Duchenne); to evaluate the HRQoL of patients with Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA) or limb girdle muscular dystrophy (LGMD), and to assess the family and caregiver QoL. METHODOLOGY: The LSI-A and PedsQL Duchenne questionnaires were validated obeying the stages of cultural adaptation and validation. After validation, the LSI-A questionnaire was administered to patients with DMD, SMA or LGMD, the PedsQL Duchenne to patients with DMD, and the PedsQL NM to patients with SMA or LGMD. Parents of patients responded to FQoL and mothers/caregiver to WHOQOL-Bref. For statistical calculations were used: ? test Cronbach, CIC, Pearson, ROC curve for validation, and Mann Whitney, Friedman and Dunn for the application. RESULTS: Validation: the final \"Probe\" of the LSI-A parents version was 97% and patient version, 95%; PesdQL DMD parents version, 99% and patient version, 97%, indicating excellent comprehension; Cronbach\'s alfa test at LSI-A parents and patients version, respectively, achieved overall score 0.87 and 0.89; at PesdsQL parents and patient version, respectively, were obtained overall score 0.87 and 0.84. At both it was demonstrated high reliability of the items. At the application of LSI-A parents and patients version to measure HRQoL compared to controls, there was a greater number of significant dominions in DMD, SMA and LGMD, in that order. The PedsQL DMD module and NM followed the same sequence. CONCLUSIONS: According with the psychometric data, questionnaires are valid to be applied to parents and patients with NMD, as follows: LSI-A to parents and patients with DMD, SMA and LGMD, and PedsQL 3.0 Duchenne to patients with DMD and parents. The HRQL was more satisfactory in patients with LGMD, followed by patients with SMA and, finally, by DMD patients. The family QOL presented reduction of the aspects concerning material well-being, particularly for families of patients with DMD. The QoL of mothers decreased with the increase of the patients\' age, concerning the psychological, social and environmental aspects, in particular for the mothers of patients with SMA

The prevalence of low back pain (LBP) is higher in pregnant women compared to women of the same age in a general population. Pregnancy-related LBP persists 6 years after pregnancy in 16% of women. Consequently, pregnancy represents a specific risk for LBP and persistent LBP. Pregnancy-related LBP is usually studied as a single entity, however, only one subgroup of LBP, i.e. pelvic girdle pain (PGP), seems to be associated with pregnancy. Accordingly, possible differences in subgroups of patients with LBP are unknown. The aims of this thesis were the following: 1) to describe the prevalence of clinically classified subgroups of women with LBP in a cohort (no LBP, lumbar pain, PGP, and combined pain (PGP and lumbar pain)) during pregnancy and postpartum, and 2) to determine if there was a disparity in the course, health-related quality of life (HRQL), pain intensity, disability, depressive symptoms, or muscle function in subgroups of the cohort, and 3) to identify predictors for having persistent pregnancy-related PGP postpartum. Consecutively-enrolled pregnant women were classified into LBP subgroups by mechanical assessment of the lumbar spine, pelvic pain provocation tests, standard history, and pain drawings. All women answered questionnaires (background data, EQ-5D). Women with LBP completed the Oswestry Disability Index and pain measures. The Edinburgh Postnatal Depression Scale was used to evaluate depressive symptoms at 3 months postpartum (cut-off ≥10). Trunk muscle endurance, hip muscle strength, and gait speed were investigated. Multiple logistic regression was used to identify predictors from self-reports and clinical examination. At the 12-18 gestational week evaluation, 118/308 (38%) women had no LBP, 33 (11%) had lumbar pain, 101 (33%) had PGP, and 56 (18%) had combined pain. Three months postpartum, 183/272 (67%) women had no LBP, 29 (11%) had lumbar pain, 46 (17%) had PGP, and 14 (5%) had combined pain. Pregnant women with combined pain were most affected in terms of HRQL, pain intensity, and disability. Depressive symptoms were three times more prevalent in women with LBP (27/87, 31%) than in women without LBP (17/180, 9%). Women with PGP and/or combined pain had lower values for trunk muscle endurance, hip extensor strength and gait speed compared to women without LBP. Postpartum, 16-20% of the women had persistent combined pain or PGP, whereas 1/29 had lumbar pain. Predictors for persistent PGP or combined pain were work dissatisfaction, older age, combined pain in early pregnancy, and low endurance of the back flexors. In conclusion, women with combined pain were identified to be a target group since they had the lowest recovery rate and since the classification of combined pain was found to be a predictor for persistent PGP or combined pain postpartum. The hypothesis of an association between muscle dysfunction and PGP was strengthened. Based on the finding of high comorbidity of postpartum depressive symptoms and LBP, it seems important to screen for and consider treatment strategies for both symptoms.