Track topics on Twitter Track topics that are important to you
The information will be presented by the renowned clinician scientist, Barry Byrne, M.D., Ph.D.
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.
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...
Arthritis Fibromyalgia Gout Lupus Rheumatic Rheumatology is the medical specialty concerned with the diagnosis and management of disease involving joints, tendons, muscles, ligaments and associated structures (Oxford Medical Diction...
Cardiology is a specialty of internal medicine. Cardiac electrophysiology : Study of the electrical properties and conduction diseases of the heart. Echocardiography : The use of ultrasound to study the mechanical function/physics of the h...