Pompe

We're learning about Pompe disease, a rare neuromuscular disorder affecting the hips, thighs, and shoulders, as well as muscles in the lungs.

On today’s show,The Balancing Act goes behind the mystery of the rare disease called Pompe, a neuromuscular disorder.

It’s a devastating medical mystery:  random symptoms that present in many common diseases; low awareness and misconceptions among physicians; rare incidence and lack of awareness about the disease’s existence.  Chances are you’ve never heard of Pompe disease – a degenerative, genetic neuromuscular disease.  But thanks to specialists like Dr. Barry Byrne, medical geneticist and Genzyme, […]

Have you heard of Pompe disease? Most people haven’t. Pompe disease is a rare genetic neuromuscular disorder caused by an excessive buildup and storage of glycogen in the muscle cells, resulting in degenerative muscle weakness. The muscle weakness can affect many different parts of the body and cause a variety of health problems. Common symptoms of Late […]