Guideline offers roadmap for spinal and bulbar muscular atrophy care

Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy’s disease, is a rare, progressive neuromuscular disorder that is often misdiagnosed and diagnosed late. A new CMAJ guideline offers Canadian-specific recommendations for its recognition and management.

On this episode we hear from Richard Paul, a former bus driver from Saskatoon, who recalls how his symptoms began suddenly with an inability to bite into a sandwich and, over the years, progressed so gradually he barely noticed the loss of strength. His experience captures both the slow, inexorable progression of SBMA and the uncertainty of living without a diagnosis for decades.

Mr. Paul was finally diagnosed by Dr. Kerri Schellenberg, a neuromuscular neurologist at the University of Saskatchewan and lead author of the guideline. She explains the clinical hallmarks of SBMA, its overlap with conditions such as ALS, and the non-motor manifestations that require attention. She also discusses the higher prevalence among Indigenous populations in Canada and how her team worked with a community Guiding Circle to ensure the recommendations reflect culturally appropriate care.

For physicians, the guideline provides practical direction to support earlier recognition, timely referral, and multidisciplinary management. While there is no cure, coordinated care can significantly improve quality of life for people living with SBMA.

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