Overcoming the Challenges of Ultra Rare Diseases, Limb Girdle Muscular Dystrophy: Peter Kang, MD

Overcoming the Challenges of Ultra Rare Diseases, Limb Girdle Muscular DystrophyWATCH TIME: 5 minutes

“A lot of patients with Limb Girdle muscular dystrophy can get diagnoses, including genetic diagnoses. But there's a persistent subset of patients who can't and have not been able to get definitive genetic diagnoses, which is really frustrating for those patients.”

Limb girdle muscular dystrophy (LGMD), a heterogeneous group of genetic disorders, is characterized by progressive muscle weakness with dystrophic muscle pathology. The clinical diagnosis of LGMD may include a thorough evaluation by a neuromuscular clinician, serum creatine kinase measurements, genetic testing, and muscle biopsy.¹ Despite advances in research, there are still challenges that patients and clinicians experience with LGMD.

Peter Kang, MD, recently served as the chair in an ultra-rare disease session focused on LGMD at the 2023 Muscular Dystrophy Association (MDA) Clinical & Scientific Conference, March 19-22, in Dallas, Texas. 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.²

Kang, the director of the Paul and Sheila Wellstone Muscular Dystrophy Center and professor of neurology at the University of Minnesota, sat down with NeurologyLive® in an interview at the conference 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.

Click here for more coverage of MDA 2023.

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
2. Kang P. LGMD: Emerging Solutions. Presented at: MDA Clinical & Scientific Conference; March 19-22, 2023; Dallas, TX. LGMD session.