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Spinal muscular atrophy (SMA) causes severe weakness of all muscles. Until recently, it was one of the most common genetic causes of infant death. With new medical treatments, children with SMA now live, but with disabilities. Rehabilitation has always been important in the care of children with SMA. In the past, therapists used to give special equipment to children and families. Now that children with SMA can improve, rehabilitation can change to build skills. However, we don’t know what techniques are best, or what parents and children would like from therapy. Further, parents and children don’t always agree on what it is like to live with a disability or what is important to them. In this research, we will talk to people over Zoom, including parents, children and young adults with SMA, and therapists. To be youth friendly, we will invite everyone to use fun ways, such as making art and online drawings, to “create” a picture of what rehabilitation can look like. We will write out everything people say and look for patterns about what is important from different views. From what people say, the research team and patient partners will make a scheme that describes how to make rehabilitation plans for children with SMA. Our research will help make better rehabilitation plans for children with SMA. It may also help guide therapists when new medical treatments change what is possible for other conditions.

People with muscle disorders often ask advice on exercise. There is evidence for positive effects of exercise and that it is safe. Most of the studies were done in the hospital or rehabilitation center. This has some clear disadvantages. Travelling to and from the center is tiring for many people with muscle disorders. It also leads to high health care costs. An exercise program in the home environment may be a solution. There is however a lack of home-based programs for people with muscle disorders. Our team developed such an exercise program, called B-FIT in the Netherlands. B-FIT supports health care professionals to tailor the program to the patient. It can also be used to take exercise away from the hospital into the home or community. B-FIT was proven to be successful in the Netherlands. Now many health care professionals are using it there. The use of B-FIT may also be helpful for people living with muscle disorders in Canada. In this project, 20 persons with the muscle disorder called oculopharyngeal muscular dystrophy (OPMD) living in Quebec will follow the B-FIT exercise program. They will train in their own home. The program will be supervised by a trained physiotherapist. After the program, we will ask patients and therapists if they were satisfied with the use of the training guide. We will also evaluate physical fitness. We expect that physical fitness will be improved after the exercise program. This will help people with OPMD to maintain their independency and to improve their quality of life.

Neuromuscular disorders (NMD) can be difficult diagnoses for the most skilled clinician. Multiple approaches may be needed to achieve a final accurate diagnosis. Muscle MRI is a diagnostic tool used more often. However, it requires a high degree of expertise, which limits its use only to highly specialized centers. We propose to use artificial intelligence (AI) and machine learning (ML) to create a user-friendly mobile application. It will be able to do image segmentation, scoring, and pattern recognition. It will help to understand differences between probable diagnoses and insight of genetic results. We will work with MRI databases and key AI and ML experts from the University of Toronto. Our earlier work established the use of AI using manual scoring. It allowed the diagnosis of 10 disorders using MRI. We aim to expand our current database to 7 more childhood NMDs. If successful, we will simplify the use of muscle MRI as a diagnostic tool.

Food contains protein, which plays an important role in maintaining muscle size and function, and support overall health. Insufficient dietary protein intake can reduce muscle size and function, and impair health. How much protein should be eaten by people who have muscular dystrophy is not known. In this study, adults with muscular dystrophy will be asked to consume different amounts of protein, from very small to very large, in order to determine the optimal protein intake. We will also collect breath and urine samples to answer our research question. This study will allow us to determine how much protein people with muscular dystrophy need to consume to give their body what it needs. Eating enough protein may help people with muscular dystrophy better maintain the size and strength of their muscles and improve their quality of life.

Children with disorders that affect their muscles and nerves typically also have trouble with breathing. These disorders are called neuromuscular diseases (NMD). Some children with NMDs use machines to help with breathing and with coughing. These machines have been shown to improve quality of life and survival in these children, but may also be disruptive and hard to use. Most guidelines on the lung health of children with these disorders are based on what experts think because there is not enough research in this field. Recently, there have been new medicines for some of the NMDs. With all these changes to the care of children with NMD it is very important to prioritize the top research questions for scientists to focus on. This study will ask patients and families and clinicians about the questions they have about the lung health. The study has three phases. The first phase is a survey that collects research questions that are important. The second phase is a survey that narrows the research questions down to a short list. In the third phase, everybody comes together to decide on a list of the top ten research questions. This list will let people know about the most questions related to lung health for children with these neuromuscular disorders.

Grant Summary: Roughly 4 million Canadians are affected by muscular dystrophies such as Duchene Muscular Dystrophy (DMD). This disorder leads to a decline in mobility and voluntary activity. Ultimately, this results in high rates of mortality. Muscle wasting is commonly thought to be only a problem of the muscle itself. Yet, muscle stem cell (MuSC) dysfunction also plays an important role. Normally these specialized MuSC allow muscle to heal and repair itself. In patients with DMD, these cells do not work properly leading to muscle breakdown. The researchers’ recent work has shown that mitochondria are required for proper MuSC function. Unfortunately, mitochondria in MuSCs do not act well in DMD. The goal of this study is to assess whether mitochondria in MuSCs can act as a therapeutic target to treat DMD. Findings from this work will allow the researchers to target MuSCs as an intervention for DMD and other neuromuscular disorders.

Grant Summary: Myotonic dystrophy is a neuromuscular condition that makes muscles very weak and unhealthy. There are two types of Myotonic dystrophy, sometimes called ‘DM’-Type DM1 and Type DM2. DM1 and DM2 have similar problems – poor muscle health. Poor muscle health in this condition may be caused by poor muscle cells. Muscle cells come from special cells called ‘stem cells’. Finding out ways to improve muscle stem cell function will help improve muscle health. It has been shown that exercise can improve DM1 muscle by activating stem cells. However, the researcher does not know if these findings also apply to DM2 muscle. This work will examine the effects of the DM2 on muscle. They will test if interventions that are beneficial for DM1 muscle can be applied to DM2 muscle. They believe that this funded work will help further understand the DM2 disease and identify ways to manage DM2.

Grant Summary: Muscular dystrophies (MDs) are a group of rare muscle conditions that can affect, amongst others, young children. To date, no effective treatment is available for MD. The causes of different forms of MD are highly diverse, which makes it difficult to develop treatments that can be used for all patients. In mouse models of three different types of MD (Duchenne, Collagen 6 related, and Lama2-related muscular dystrophies), the researchers discovered that the ability of muscle to repair itself is strongly reduced. They observed that, compared to healthy muscles, this is due to a lower amount of blood flow in the tissue. They next identified a drug that is able to increase the amount of blood vessels in muscles of mouse models of MD. In all three models, this treatment led to dramatically improved self-repair of muscles. Interestingly, they found that this was due to better function of muscle stem cells. Dystrophic mice treated with this drug showed many improvements, lived longer, and became 2-3 times stronger than animals that did not receive the medication. Based on their initial discovery, they now will search for drugs that are even more effective and have a stronger treatment effect. They will also try to better understand the mechanism of action that leads to the striking reduction in disease severity. The study will lay the groundwork for a much-needed novel and highly efficient drug that can be used to treat many different forms of MD.

About Dr. Patel: Dr. Neha Patel is in her final year of Neurology residency training at the University of Toronto. She will be starting her Neuromuscular Medicine Fellowship in July 2023 at Sunnybrook Health Sciences Centre with Dr. Lorne Zinman and Dr. Agessandro Abrahao. She has always had an avid interest in Neuromuscular Medicine and over the last 9 years has participated in clinical, basic sciences and electrophysiologic research in myasthenia gravis, Pompe Disease and amyotrophic lateral sclerosis respectively. She hopes to continue to enhance and refine her clinical approach to Neuromuscular Medicine throughout her fellowship training, and also participate in amyotrophic lateral sclerosis research, a devastating condition which currently lacks disease-modifying treatments. Outside of work she is an avid marathon runner, scuba diver and enjoys exploring new restaurants and cuisines.

About Dr Soucy: Dr Soucy completed her Physical Medicine and Rehabilitation residency at Université de Montréal. She has a long-standing interest in working with patients with neuromuscular diseases as well as in medical education and physician wellness. During her training in Calgary, she will develop her expertise in management of these complex populations along with her proficiency in electrodiagnostics and ultrasound. She is thankful for the fantastic opportunity to that this clinical fellowship funding will offer her. Outside of medicine, she enjoys spending time (and sharing food) with loved ones, baking, embroidery, hiking, traveling, and taking care of her plants. Dr Soucy looks forward to coming back to Montreal after her fellowship to further develop adult neuromuscular rehabilitation in her area and ensure her future patients will receive the full scope of quality care they deserve.