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, 2024, the Muscular Dystrophy Association will host a special live Q&A on the day of the awareness event with their LGMD virtual learning series presenters. Attendees will have the opportunity to ask questions live regarding updates in research and treatment, cardiac care, and exercise/at-home physical therapy for LGMD. The Q&A panelists will include the following experts: Peter Kang, MD; Forum Kamdar, MD, PhD, FACC, FHFSA; Molly Stark, PT, DPT.
The event is at no cost for members of the MDA community or healthcare providers although registration is required. If there are those who are interested in the event but not able to attend, an on-demand recording will be available approximately 3 weeks after the live program but registration online will still be needed to ensure an email with the link is received. To register for the online event hosted by the MDA on September 30, 2024, held at 4pm ET, click the link here.
One of the Q&A panelists, Kamdar, an advanced heart failure physician-scientist at the University of Minnesota, recently discussed how interdisciplinary collaboration helps to improve care for patients with neuromuscular cardiomyopathies in an interview with NeurologyLive®. She also shared innovative techniques in development to study the heart failure mechanisms in muscular dystrophies. Moreover, Kamdar spoke about how she manages the balance between patient care, research, and mentoring in her demanding role.
NeurologyLive: What are some of the main responsibilities you have in your role?
Clinical Facts on LGMD
- LGMD is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs.
- There are more than 30 known sub-types of LGMD with more being discovered each year.
- LGMD can affect the heart and muscles necessary for breathing.
REFERENCES
1. LGMD Facts. LGMD Awareness Foundation. Accessed September 26, 2024. https://www.lgmd-info.org/wp-content/uploads/2021/05/List-of-LGMD-Facts.pdf
Forum Kamdar, MD, PhD, FACC, FHFSA: As a heart failure physician-scientist, I have a dual role in patient care and research, with a focus on neuromuscular heart failure. Clinically, I see patients in the interdisciplinary Neuromuscular Cardiomyopathy Clinic, which is a unique clinic dedicated to screening and treating heart involvement patients with living with muscular dystrophies and neuromuscular disorders. Some of my responsibilities include managing complex patient care, coordination of interdisciplinary care with neuromuscular neurologists, pulmonologists, and other specialists.
As an advanced heart failure physician, I also treat heart failure associated with muscular dystrophy with medical therapies and if appropriate consider advanced heart failure therapies including heart transplantation and ventricular assist device implantation. Additionally, I teach and mentor trainees to promote their professional growth and development.I lead a research program in Neuromuscular and Genetic Cardiomyopathies that spans from basic bench research to patient-oriented clinical research. We aim to better understand the mechanisms of heart failure in muscular dystrophies and to develop more effective treatments, ultimately improving patient’s lives.
Could you describe a typical day in your work?
A typical day in my work varies depending on whether I'm in the clinic, on the hospital heart failure service, or focusing on research. I enjoy the diversity in my daily tasks, which keeps my work both engaging and rewarding. In the clinic, I evaluate and treat cardiovascular issues in patients living with neuromuscular diseases, working closely with neuromuscular neurologists and other specialists to coordinate comprehensive care.
When I'm in the hospital, I see patients with advanced heart failure, often in the heart failure ICU or on the floor. It's a privilege to provide care to patients during some of their most vulnerable moments and to support them through complex heart failure treatments.
In addition to patient care, a significant part of my day involves research, where I work to better understand how muscular dystrophies lead to heart involvement, such as heart failure. In the lab, we use 3D printed patient-derived heart cells to explore molecular and cellular changes in muscular dystrophy hearts, we collect blood samples to study how these changes manifest in real patients, and also conduct clinical research. My time is also dedicated to mentoring trainees, writing grants, and keeping up with the latest advancements in the field.
What motivated you to pursue this career, and when did you make this decision?
My interest in cardiology began in high school when I spent a summer conducting research in a heart physiology lab through an American Heart Association scholarship. This experience ignited my passion for clinical training in cardiology and cardiovascular research. A significant catalyst for my focus on neuromuscular cardiomyopathy occurred during my internship, when I met two brothers with Duchenne muscular dystrophy. Hearing that there was nothing available to help manage their heart conditions deeply impacted me.
This experience motivated me to concentrate on heart failure associated with Duchenne muscular dystrophy during my PhD training and cardiology fellowship. Recognizing the gap in cardiovascular care for these resilient patients led to the establishment of the Neuromuscular Cardiomyopathy Clinic, where we aim to provide comprehensive support and treatment for individuals facing these unique challenges.
What do you find most rewarding about your work?
The most rewarding aspect of my work is finding innovative solutions that reduce barriers to cardiovascular care for patients living with neuromuscular diseases. It’s incredibly fulfilling to develop new approaches to understanding how heart failure occurs and seeing the positive impact this has on patient care. Sharing our research findings with patients and their families, providing them with hope, is particularly meaningful to me. Additionally, I find great joy in mentoring trainees at all stages of their careers and helping guide their professional development.
What are some of the biggest challenges you face in your role?
One of the biggest challenges I face as a physician-scientist is finding the right balance between my clinical and research responsibilities. While I’m fortunate that my research closely aligns with my clinical work, the demands of both can be challenging. Patient care always comes first, requiring immediate attention, while research requires long-term focus and meticulous planning. Balancing these responsibilities, along with mentorship and collaborations, can be difficult but also incredibly rewarding. It requires constant prioritization and adaptability to ensure both patient care and research goals are met effectively.
Is there something that you wish more patients and clinicians understood about the field?
I think it’s important for both physicians and patients to recognize that cardiovascular involvement is common in patients with neuromuscular diseases. Optimizing cardiovascular care for these patients, through reducing barriers and providing highly interdisciplinary care, is essential. This is why I also prioritize educating patients and their families about heart involvement in muscular dystrophies, empowering them to advocate for themselves and seek the care they need.
In addition to your work, what hobbies or interests do you have?
Outside of work, I love spending time with my family, especially recharging by spending time in nature. I also enjoy reading, volunteering, and getting creative with LEGO projects!
Transcript edited for clarity.
Click here for more coverage on neuromuscular diseases.
REFERENCES
1. Mitsuhashi S, Kang PB. Update on the genetics of limb girdle muscular dystrophy. Semin Pediatr Neurol. 2012;19(4):211-218. doi:10.1016/j.spen.2012.09.008
Registration for the 2025 MDA Conference is now open! The meeting is set to be held at the Hilton Anatole, Dallas, Texas, from March 16 to 19, 2025. To register and for more information, head to www.mdaconference.org