CRANBURY, N.J.--(BUSINESS WIRE)--Rare Disease Report®, the digital component of Rare Disease Communications®, is pleased to host a webinar series titled “A Case Study in Identifying a Rare Neuromuscular Disease.” The webinar, scheduled to go live at 12:15 p.m. and 3:15 p.m. on Aug. 8, 2017, will feature Barry J. Byrne, M.D., Ph.D., professor and associate chair in the department of pediatrics at the University of Florida College of Medicine, as key speaker.
Dr. Byrne will discuss the key clinical signs and procedures necessary to obtain a proper diagnosis for a rare neuromuscular disease such as late-onset Pompe disease. In addition, Dr. Byrne will speak about the importance of screening and detection.
Late-onset Pompe disease is a lysosomal storage disorder affecting glycogen metabolism that can often take years, in some cases greater than 10, to properly diagnose. However, with knowledge of the pathophysiology and symptoms associated with this rare condition as well as testing options, a time to diagnosis can be reduced.
Dr. Byrne is a clinician scientist and pediatric cardiologist whose research focuses on rare diseases with a specific focus on inherited muscle disease and conditions that lead to skeletal muscle weakness and abnormalities in heart and respiratory function.
About Rare Disease Communications®
Rare Disease Communications® is a health care communications and media company focused on the rare disease community and dedicated to raising awareness of rare diseases and orphan drugs so that patients will be diagnosed and treated more efficiently. Rare Disease Communications® is part of the Michael J. Hennessy Associates Inc. family of businesses, based in Cranbury, New Jersey. MJH Associates is dedicated to improving quality of life through health care education, research and communication. To learn more, visit mjhassoc.com.