Machado Joseph Disease (MJD) (spinocerebellar ataxia 3) is a hereditary neurodegenerative disease causing progressive ataxia and loss of mobility. It is the most common spinocerebellar ataxia worldwide. Among Aboriginal families of Groote Eylandt and related communities across Australia’s Top End, MJD is estimated to be more prevalent than anywhere else in the world. This study explored lived experiences of individuals and families with MJD to determine what is important and what works best to keep walking and moving around. A collaborative qualitative exploratory study, drawing from constructivist grounded theory methods, was undertaken for data collection and analysis. Semi-structured in-depth interviews were conducted with individuals with MJD (n = 8) and their family members (n = 4) from the Groote Eylandt Archipelago where ~1500 Aboriginal people (Warnumamalya) live. Interviews were led by Warnumamalya community research partners in participants’ preferred language(s). Participants described their experience of living with MJD, from ‘knowing about MJD’, ‘protecting yourself from MJD’ and ‘adjusting to life with MJD’. While the specific importance of walking and moving around differed widely between participants, all perceived that walking and moving around enabled them to do what mattered most to them in life. ‘Staying strong on the inside and outside’ (physically, mentally, emotionally, spiritually) was perceived to work best to keep walking and moving around as long as possible. A framework that included personal and environmental strategies for staying strong emerged: ‘Exercising your body’, ‘having something important to do’, ‘keeping yourself happy’, ‘searching for good medicine’, ‘families helping each other’ and ‘going country’. This study, the first to explore lived experiences of MJD in Australia, highlights the importance of maintaining mobility as long as possible. Strategies perceived to work best address physical and psychosocial needs in an integrated manner. Services supporting families with MJD need flexibility to provide individualised, responsive and holistic care.

Physical activity has positive health implications for individuals living with neurodegenerative diseases. The success of physical activity programs, particularly in culturally and linguistically diverse populations, is typically dependent on their alignment with the culture, lifestyle and environmental context of those involved. Aboriginal families living in remote communities in the Top End of Australia invited researchers to collaborate with them to co-design a physical activity and lifestyle program to keep individuals with Machado-Joseph disease (MJD) walking and moving around. The knowledge of Aboriginal families living with MJD, combined with findings from worldwide MJD research, formed the foundation for the co-design. An experience-based co-design (EBCD) approach, drawing from Indigenous and Participatory methodologies, was used. An expert panel of individuals with lived experience of MJD participated in a series of co-design phases. Prearranged and spontaneous co-design meetings were led by local community researchers within each phase. Data was collected using a culturally responsive ethnographic approach and analysed thematically. Sixteen panel members worked to develop the ‘Staying Strong Toolbox’ to cater for individuals with MJD who are ‘walking strong’; or ‘wobbly’; or ‘in a wheelchair’. Based on the ‘Staying Strong Framework’, the Toolbox was developed as a spiral bound A3 book designed to guide the user to select from a range of activities to keep them walking and moving around and to identify those activities most important to them to work on. The ‘Staying Strong Toolbox’ is a community driven, evidence based resource for a physical activity and lifestyle program for Aboriginal families with MJD. The Toolbox provides a guide for health professionals and support workers to deliver person-centred support to Aboriginal families with MJD, and that can be modified for use by other families with MJD or people with other forms of ataxia around the world.

ObjectivesMachado-Joseph disease (MJD) is the most common spinocerebellar ataxia worldwide. Prevalence is highest in affected remote Aboriginal communities of the Top End of Australia. Aboriginal families with MJD from Groote Eylandt believe ‘staying strong on the inside and outside’ works best to keep them walking and moving around, in accordance with six key domains that form the ‘Staying Strong’ Framework. The aim of this current study was to review the literature to: (1) map the range of interventions/strategies that have been explored to promote walking and moving around (functional mobility) for individuals with MJD and; (2) align these interventions to the ‘Staying Strong’ Framework described by Aboriginal families with MJD.DesignScoping review.Data sourcesSearches were conducted in July 2018 in MEDLINE, EMBASE, CINAHL, PsychINFO and Cochrane Databases.Eligibility criteria for selecting studiesPeer-reviewed studies that (1) included adolescents/adults with MJD, (2) explored the effects of any intervention on mobility and (3) included a measure of mobility, function and/or ataxia were included in the review.ResultsThirty studies were included. Few studies involved participants with MJD alone (12/30). Most studies explored interventions that aligned with two ‘Staying Strong’ Framework domains, ‘exercising your body’ (n=13) and ‘searching for good medicine’ (n=17). Few studies aligned with the domains having ‘something important to do’ (n=2) or ‘keeping yourself happy’ (n=2). No studies aligned with the domains ‘going country’ or ‘families helping each other’.ConclusionsEvidence for interventions to promote mobility that align with the ‘Staying Strong’ Framework were focused on staying strong on the outside (physically) with little reflection on staying strong on the inside (emotionally, mentally and spiritually). Findings suggest future research is required to investigate the benefits of lifestyle activity programmes that address both physical and psychosocial well-being for families with MJD.

No abstract