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- Title
Higher than expected incident cases of spinal bulbar muscular atrophy in western Canada.
- Authors
Lamont, Ryan; King, Malcolm; King, Alexandra; Schellenberg, Kerri; Pfeffer, Gerald
- Abstract
A recent study has found that spinal bulbar muscular atrophy, also known as Kennedy disease, has a higher prevalence among Indigenous people in the prairie provinces of western Canada. The study estimated the prevalence to be 1/6802, the highest known prevalence in the world, but it is believed to be an underestimate. The underdiagnosis of the disease is likely due to various factors, including variable penetrance, expressivity, and social determinants of health. The study also found that family genetic counseling and carrier testing may be under-utilized in the region, indicating a need for better access to these resources.
- Subjects
CANADA; SPINAL muscular atrophy; MUSCULAR atrophy; MUSCULAR dystrophy; SPINOCEREBELLAR ataxia
- Publication
Brain: A Journal of Neurology, 2024, Vol 147, Issue 5, pe43
- ISSN
0006-8950
- Publication type
Article
- DOI
10.1093/brain/awae052