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Revolutionizing the Diagnosis and Treatment of Rare Muscle Diseases

Photo Credit: Institute for Exercise and Environmental Medicine (IEEM)

Metabolic and mitochondrial myopathies are a set of rare genetic disorders of metabolism leading to disruption in energy production and a multitude of clinical symptoms. Symptoms are non-specific, often leading to delayed diagnosis or misdiagnosis. Salman Bhai, M.D., an Assistant Professor of Neurology at UT Southwestern Medical Center and Director of the Neuromuscular Center at the Institute for Exercise and Environmental Medicine (IEEM) at Texas Health Presbyterian Hospital Dallas, is paving the way to address these concerns. His international and national partnerships enable him to further research in muscle metabolism to improve our understanding of these rare muscle diseases and support patients who come from all over the country for diagnosis and treatment.

Ultimately, the goal is to have clear physiologic parameters to track disease progression as well as devise targeted interventions in mitocohondrial and inflammatory myopathies.” – Dr. Salman Bhai

Leveraging IEEM’s state-of-the-art exercise facility and highly specialized exercise physiologists, Dr. Bhai’s objective is to understand the mechanisms explaining exercise intolerance in patients with muscle disorders. Exercise intolerance can be multifactorial and a non-specific symptom; however, in myopathies, specific defects can be identified, such as disruption of oxygen delivery or utilization. He uses myositis as a model disease to study different mechanisms that disrupt energy production in muscle. Unlike conventional static tests, exercise provides a dynamic physiological stressor that reflects how muscles and subsequent metabolic shifts respond under increased demands. Various methods in integrative and vascular physiology methods are used, in addition to infusions with isotope labeled glucose and lactate. Ultimately, the goal is to have clear physiologic parameters to track disease progression as well as devise targeted interventions in mitochondrial and inflammatory myopathies.

Collaboration is integral to Dr. Bhai's work. He collaborates with basic science researchers conducting similar studies, while working with his international counterparts at the University of Copenhagen to further research in this area. Furthermore, Dr. Bhai was recently invited by the European Neuromuscular Centre (ENMC) to contribute to an international workshop of experts in myositis to update the diagnostic criteria for inclusion body myositis. Additionally, he is an organizer for an ENMC workshop on diagnosing rhabdomyolysis.  

Beyond defining the pathogenesis of muscle diseases, Dr. Bhai is dedicated to helping clinicians recognize metabolic, mitochondrial, and inflammatory myopathies so that they can appropriately diagnose these conditions. He has given national and international lectures on his areas of expertise through grand rounds, conferences, and courses, most recently in an international course on muscle glycogenoses for the Recordati Rare Diseases Foundation. He is passionate about teaching and works to improve not only the clinical skills of trainees at UTSW, but also their wellbeing.

Dr. Bhai brings an exciting and multifaceted approach to his work at UT Southwestern. The unique resources at IEEM and UTSW allow him to pursue his interests from a perspective not yet fully explored.