First Canadian guidelines for clinical care of spinal bulbar muscular atrophy

Physicians in Canada will benefit from new Canadian guidelines for the diagnosis and management of spinal bulbar muscular atrophy (SBMA), sometimes called Kennedy’s disease. The guidelines are intended for physicians of all specialties and allied healthcare professionals such as speech-language pathologists.SBMA is a X-linked recessive adult-onset neuromuscular disorder. Previously, the only guidelines available were from France, and don’t address the Canadian context of the disease nor how to care for female carriers of SBMA. The new guidelines are a collaborative effort involving multiple disciplines, patients and Indigenous elders and knowledge holders. While SBMA is rare, the highest prevalence for the disease is among Indigenous populations in Saskatchewan. It has a prevalence of one to two cases per 100,000 elsewhere in the world, but in Saskatchewan it is 14.7 per 100,000 people. Manitoba, Alberta and Western Ontario also have a higher prevalence than the global average. It has a high prevalence in people with Cree, Saulteaux and Métis heritage, and previous research published in Neurology Genetics by University of Saskatchewan suggests there is a founder effect.There is currently no disease-modifying treatment available for SBMA, but appropriate management of symptoms provides multiple benefits, said Dr. Kerri Schellenberg, lead author of the guidelines and associate professor of neurology at the University of Saskatchewan. Dr. Kerri Schellenberg discussed the guidelines on a recent CMAJ podcast. Men with SBMA usually develop a tremor and cramps in their 20s or 30s, which progresses to weakness in arms and legs that affect gait, difficulty with speech and swallowing and eventually respiratory weakness. “The phenotype looks quite similar to ALS, but how it presents is very different, in younger individuals with these additional symptoms that progress very slowly over decades,” Dr. Schellenberg said. Clues to differentiate SBMA from ALS include a younger age of onset and more protracted disease, peri-oral vesiculations and non-motor associations, Dr. Schellenberg said. SBMA is associated with cardiac rhythm disturbances, endocrine and/or metabolic problems (i.e., nonalcoholic fatty liver disease, dyslipidemia, diabetes).Women do have symptoms, which tend to be mild. Women with SBMA are not well studied. Dr. Schellenberg’s lab is studying this area.Management of symptoms may include modifying food in dysphagia, and respiratory support (i.e., CPAP for sleep apnea). The guidelines recommend multidisciplinary and culturally safe care for patients with SBMA.Patients involved in creating the guidelines were keen to raise awareness about the disease, Dr. Schellenberg shared on the podcast. The road to diagnosis is often long. Patients are also sometimes misdiagnosed with Bell’s palsy or stroke. The disease presents itself in such a way that patients can be misunderstood, such as the case where a patient with SBMA was kicked out of a furniture store because the staff thought that they were intoxicated.The new guidelines were published in the CMAJ.

First Canadian guidelines for clinical care of spinal bulbar muscular atrophy

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