As part of our monthly clinician spotlight, NeurologyLive® highlighted neueomuscular expert Peter Kang, MD, director of the Paul and Sheila Wellstone Muscular Dystrophy Center and professor of neurology at the University of Minnesota.
Neurologists are highly trained medical professionals who play a critical role in the healthcare system in helping patients of all ages to manage their conditions that can affect every aspect of their lives. Each month, NeurologyLive® shines a spotlight on the work of one neurologist, highlighting contributions to their specific field.
Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of genetic disorders that are characterized by progressive muscle weakness with dystrophic muscle pathology. Its clinical diagnosis may include a thorough evaluation by a neuromuscular clinician, serum creatine kinase measurements, genetic testing, and muscle biopsy.1 Despite the several advances in research, there are still challenges that patients and clinicians experience with the disease.
In honor of LGMD awareness day, held September 30, 2023, Peter Kang, MD, FAAN, FAAP, the director of the Paul and Sheila Wellstone Muscular Dystrophy Center, professor of neurology, and cocare center director at the University of Minnesota for the Muscular Dystrophy Association, recently discussed his role as a neurologist in the field of neuromuscular diseases, especially for patients living with LGMD. As a pediatric neuromuscular neurologist and scientist, he studies the genetics of muscular dystrophy and the mechanisms of rare muscle diseases to help develop new therapies for these diseases.
Peter Kang, MD: My responsibilities span the care of children with suspected or confirmed neuromuscular disorders, whether these disorders are inherited or acquired. The latter includes autoimmune, traumatic, and medication-induced conditions. My clinical activities start with diagnostic evaluations, including careful physical examinations, to diagnostic testing, interpretation and counseling, and culminate in a treatment plan that is individualized yet follows standard care practices.
One of the most stimulating aspects of my job is that I don't have a typical day! Every day is different and often includes time spent on both clinical care and research. Activities that occur on various days include clinic, electromyography studies, inpatient care, group laboratory meetings, individual meetings with laboratory members, discussions with an international array of collaborators, interpretation of data, manuscript writing, and grant writing.
There were two pivotal decisions I made during my training. The first was my decision to study neuromuscular disease, which was inspired by my experiences in the electromyography laboratory during residency. On my first day in the electromyography laboratory, I was struck by how diagnoses could be made with precision and localized within the peripheral nervous system, and this experience set me on the path to pursuing a career in neuromuscular medicine. The second pivotal decision was to pursue laboratory training in genetics, which I eventually combined with my interest in neuromuscular disorders. A common theme that also arises from these interests is a drive towards precision in diagnosis, which in turn leads to greater precision in therapy.
The most rewarding aspect of my work as a neuromuscular neurologist is to bring clarity to patients, whether it is on the diagnostic side or the therapeutic side. I strive towards this clarity in the clinic and in the laboratory.
The biggest challenge I face now is when I see gaps in molecular therapies both between diseases and between individuals. One of the most difficult conversations I can have these days is when I have to tell families either that their child is not eligible for an advanced therapy, or that such advanced therapies have not been developed for their child's disease.
There is so much work left to be done! Despite all the amazing scientific advances in recent decades, there are too many patients left with diagnostic uncertainty, and too many patients with diagnoses who do not have adequate therapeutic options.
Last winter I went cross-country skiing again, after a long hiatus.
Transcript edited for clarity.
At the 2023 Muscular Dystrophy Association (MDA) Clinical & Scientific Conference, March 19-22, in Dallas, Texas, Kang served as the chair in an ultra-rare disease session focused on LGMD. The session centered on the future complications that might occur in the development of therapies for LGMD, and speakers in the session reviewed patient perspectives, the current regulatory environment, and examples from the therapeutic pipeline for the disease.
At the meeting, Kang sat down with NeurologyLive® in an interview to provide an overview of the current knowledge of LGMD with regard to diagnosis and potential therapies. Additionally, he talked about the lingering challenges that patients are facing and the greatest advancement of care in the field. In contrast, Kang also spoke about the unmet needs in research and care for LGMD.