Researchers at the University of Saskatchewan (USask) have published the first Canadian clinical guidelines for Spinal Bulbar Muscular Atrophy (SBMA), a rare hereditary neuromuscular disorder.
The guidelines, titled Best Practice Recommendations for the Clinical Care of Spinal Bulbar Muscular Atrophy, were published on September 22 in the Canadian Medical Association Journal.
From left: Dr. Kerri Schellenberg (MD), Dr. Alexandra King (MD), Dr. Malcolm King (PhD), and Dr. Gerald Pfeffer (MD). (Photos: Submitted)
SBMA, also known as Kennedy's Disease, is a slowly progressive condition affecting lower motor neurons, leading to muscle weakness, atrophy and fasciculations. While globally rare, estimated at one to two cases per 100,000 the highest known prevalence in the world is among Indigenous populations in Saskatchewan, reaching 14.7 per 100,000.
Led by Dr. Kerri Schellenberg (MD), associate professor, neurology, in the Department of Medicine, the project represents a landmark in improving care for SBMA patients across Canada.
"We are very proud of the work we have accomplished," said Schellenberg. "This has been a truly multidisciplinary and patient-oriented endeavour that has the potential to transform care for those who need it most. We look forward to next stages of this work which will focus on implementation of these guidelines and removing barriers to care. This is in line with the community's wish for further research, awareness, education and advocacy."
The guidelines were developed through collaboration with experts in neurology, cardiology, respirology, endocrinology, physiatry and primary care, along with people with SBMA, Elders and Knowledge Holders who formed the Community Guiding Circle. This included Dr. Alexandra King (MD) and Dr. Malcolm King (PhD), co-leads of Pewaseskwan (the Indigenous Wellness Research Group) at the USask College of Medicine, and Dr. Gerald Pfeffer (MD), a clinician-scientist in the Department of Clinical Neurosciences and Hotchkiss Brain Institute.
The process included literature reviews, evidence synthesis and extensive community consultation with people living with SBMA, female carriers of the condition, other medical experts and patient advocacy organizations.
Until now, the only existing guidelines for SBMA were published in France and did not address symptoms for female carriers or cultural responsiveness which is a need in Canada. The new Canadian guidelines address these gaps and offer additional recommendations for the multidisciplinary nature of the disease including managing cardiac, endocrine, sensory and speech-related complications many of which are under-recognized.
"This project represents an important step forward, not only in setting the first Canadian clinical guidelines for spinal bulbar muscular atrophy, but in demonstrating how care can be shaped through collaboration across disciplines and in partnership with Indigenous communities," said Pfeffer. "By grounding these guidelines in both medical expertise and community engagement, we hope to ensure they are relevant, respectful and impactful for patients and families in Canada and beyond."
Many SBMA patients face a diagnostic odyssey, often misdiagnosed or misunderstood. Recently, a man was removed from a furniture store after staff mistook his speech difficulties for intoxication which is an example of the stigma and lack of awareness surrounding SBMA.
Schellenberg's team is also pursuing ongoing research, including genetic and clinical aspects of the disease, RNA sequencing and qualitative studies using photovoice to better understand patient experiences. Plans are underway to study barriers to guide implementation and engage policymakers to improve access and care.
"We really enjoyed working with Dr. Schellenberg and the team to develop these guidelines it marks a meaningful first step that goes beyond clinical recommendations by recognizing Indigenous perspectives on health and living well with chronic conditions," said Alexandra King. "This process has laid the foundation for future efforts to centre people with lived and living experience in care planning and decision-making."
The guidelines are intended for all health-care providers from primary health-care physicians to specialists, allied health providers such as physical therapists, speech-language pathologists and dietitians reflecting the wide-ranging impact of SBMA.
A podcast featuring Schellenberg and a patient was released on September 22. Here is the link to the podcast: https://www.cmaj.ca/content/197/31/E987/tab-related-content Further outreach is planned through presentations across Canada to build awareness.
The full study is published in the Canadian Medical Association Journal: https://www.cmaj.ca/content/197/31/E987
For more information
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