Perceptions of the transition from receiving the diagnosis recessive limb-girdle muscular dystrophy to becoming in need of human support and using a wheelchair: an interview study

Aho, Anna Carin; Hultsjö, Sally; Hjelm, Katarina

doi:10.1080/09638288.2018.1464602

Cited by 12 publications

(10 citation statements)

References 30 publications

(55 reference statements)

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“…Loss of ambulation tends to occur earlier for more severe forms of the disease, though even patients with LGMD R2 may require a wheelchair by the third to fourth decade of life (Table 5 ). While concern over losing mobility does not disappear, some patients may eventually find a renewed sense of independence using a wheelchair [ 79 ]. Support and education are paramount to patients and families living with LGMD.…”

Section: Coping With Lgmdmentioning

confidence: 99%

A Journey with LGMD: From Protein Abnormalities to Patient Impact

Georganopoulou¹,

Moisiadis²,

Malik³

et al. 2021

Protein J

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The limb-girdle muscular dystrophies (LGMD) are a collection of genetic diseases united in their phenotypical expression of pelvic and shoulder area weakness and wasting. More than 30 subtypes have been identified, five dominant and 26 recessive. The increase in the characterization of new genotypes in the family of LGMDs further adds to the heterogeneity of the disease. Meanwhile, better understanding of the phenotype led to the reconsideration of the disease definition, which resulted in eight old subtypes to be no longer recognized officially as LGMD and five new diseases to be added to the LGMD family. The unique variabilities of LGMD stem from genetic mutations, which then lead to protein and ultimately muscle dysfunction. Herein, we review the LGMD pathway, starting with the genetic mutations that encode proteins involved in muscle maintenance and repair, and including the genotype–phenotype relationship of the disease, the epidemiology, disease progression, burden of illness, and emerging treatments.

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Section: Coping With Lgmdmentioning

confidence: 99%

A Journey with LGMD: From Protein Abnormalities to Patient Impact

Georganopoulou¹,

Moisiadis²,

Malik³

et al. 2021

Protein J

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Section: Backg Rou N Dmentioning

confidence: 99%

“…Furthermore, the prevalence is rising and the mortality from NMD is declining (Rose et al, 2019). The progression of NMD is often ongoing throughout life and the speed of progression depends on the specific NMD subtype (Aho et al, 2019; Meade et al, 2018). In slowly progressing subtypes, symptoms like fatigue, poor endurance and pain make it increasingly difficult to engage in physical activity.…”

Section: Introductionmentioning

confidence: 99%

Ageing with neuromuscular disease: Implications for a lifeworld‐led care through a humanising approach

Møller

Martinsen

Werlauf³

et al. 2021

Journal of Clinical Nursing

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Objectives: To understand the care and support needs in ageing with neuromuscular disease from a patient-user perspective. Background:The term neuromuscular disease covers several chronic hereditary or acquired disease subtypes. In the developed countries, advances in symptoms management, technical advancements and rehabilitation initiatives have resulted in increased life expectancy for some subtypes. Life with neuromuscular disease is thus likely to continue into adulthood and old age. However, knowledge of the care and support needs of patients ageing with neuromuscular disease remains sparse.Design: Adopting a user-participatory approach embedded in a phenomenological hermeneutic tradition, we conducted two user-group discussions focusing on care and support needs in people ageing with neuromuscular disease. Twenty-five users with neuromuscular disease participated in the group discussions. Data were analysed using a three-stepped analysis method inspired by the French Philosopher Paul Ricoeur. In the analysis process, dialectical movements between a surface interpretation and an in-depth understanding occur. The COREQ checklist was used to report the study.Results: Two themes were identified; 'Changes in the sheltering relationships of life require preparation' and 'Ageing introduces a dichotomy between circumstantial normalcy and minority groupness'. An understanding of care and support needs in life with neuromuscular disease was reached revealing a need for a lifeworld-led approach. Conclusion:Persons ageing with neuromuscular disease crave a fusion of disease-and age-led care and support. This fusion may be achieved through the introduction of a lifeworld-led approach to care and support.Relevance for clinical practice: Unmet care and support needs in people ageing with neuromuscular disease may result in patients experiencing fear and concern about their life situation. Healthcare professionals may play a crucial role in creating coherent lives for these persons if they understand the approach proposed herein to uncover the care and support needs in people ageing with neuromuscular disease.

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“…The term NMD covers amyotrophic lateral sclerosis (ALS) and several chronic hereditary NMD subtypes, which together form a heterogeneous population in terms of symptoms, functioning, and disease progression [ 1 ]. Persons with NMDs often experience complex rehabilitation needs, due to the disease’s impact on their functioning leaving this group of persons particularly exposed to disconnected healthcare systems [ 5 , 6 ]. This group experiences an increasing need of specialized rehabilitation efforts during a lifespan due to the biopsychosocial complexity and progression of their diseases [ 7 , 8 ].…”

Section: Introductionmentioning

confidence: 99%

Cross-sectorial collaboration on policy-driven rehabilitation care models for persons with neuromuscular diseases: reflections and behavior of community-based health professionals

Handberg

Werlauff²

2022

BMC Health Serv Res

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Background Persons with neuromuscular diseases (NMDs) often experience complex rehabilitation needs due to the disease’s impact on their functioning and progression of their diseases. As a consequence of legislation and “policy power”, community-based health professionals function as gatekeepers to the rehabilitation trajectory for persons with NMDs in a field where the other professionals are the specialists. Aim To investigate community-based health professionals’ reflections on and behaviors regarding collaboration with a tertiary rehabilitation hospital in a cross-sectorial rehabilitation care model with the overall aim of providing high quality rehabilitation for persons with NMD. Methods The design is qualitative and uses interpretive description methodology and the theoretical lens of Edgar Schein’s three levels of organizational culture and leadership. An ethnographic fieldwork was conducted from September 1, 2019 to January 30, 2020. Eighty-four community-based health professionals were included and 17 of them were interviewed in four semi-structured focus group interviews ( n = 10) and seven individual interviews ( n = 7). In addition, 151 pages of observation data were generated. The study adheres to the COREQ guidelines. Results The analysis showed three themes of importance for the collaboration: Policy and legislation navigation represented that collaboration on rehabilitation was affected by legislation as a management tool with “the case” as the core element, and goal dilemmas. Cross-sectorial knowledge exchange promoted collaboration on coordinated and facilitated rehabilitation and knowledge sharing as a firm anchoring. Patient ownership negotiations implied collaboration was influenced by knowledge founded power and gatekeeping as a navigation tool. Conclusion Three levels of organizational culture and leadership were identified, and this overall structure guided the community-based health professionals in their work and in the complex organizational landscape of collaboration between disconnected healthcare systems. The findings provided insight into behavior and attitudes and the content and the values held by the professionals collaborating across sectors. Future collaboration in rehabilitation models should be multiprofessional and team based. The findings emphasize that it is imperative that managements and professionals strive to strengthen the structure of the collaborative team spirit because this will ensure well-planned, coordinated, and conducted rehabilitation for persons with NMD and enable and support future cross-sectorial collaboration in this rehabilitation model for these persons.

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Perceptions of the transition from receiving the diagnosis recessive limb-girdle muscular dystrophy to becoming in need of human support and using a wheelchair: an interview study

Cited by 12 publications

References 30 publications

A Journey with LGMD: From Protein Abnormalities to Patient Impact

A Journey with LGMD: From Protein Abnormalities to Patient Impact

Ageing with neuromuscular disease: Implications for a lifeworld‐led care through a humanising approach

Cross-sectorial collaboration on policy-driven rehabilitation care models for persons with neuromuscular diseases: reflections and behavior of community-based health professionals

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