Rare Disease Report

Understanding & Living With Pompe Disease - Early-Onset / Childhood Diagnosed

OCTOBER 01, 2014
Guest Post by The Balancing Act

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, leader in discovering and delivering transformative therapies for patients with rare genetic conditions, awareness of Pompe symptoms and disease management is growing. By increasing awareness, physicians can achieve earlier diagnoses and patients can be armed with disease information, allowing them to more successfully self-advocate and manage Pompe.


Behind The Mystery Of Pompe Disease

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 Onset Pompe Disease include:

  • Difficulty walking
  • Trouble breathing at night while laying down
  • Falling asleep during the day
  • Headache during the day
  • Progressive muscle weakness
  • Pompe disease is often misdiagnosed because many of its symptoms are shared with other more common diseases.

Symptoms of Infantile Onset Pompe Disease include:

  • Breathing difficultes
  • "Floppy" appearance
  • Enlarged heart or other heart problems
  • Failure to thrive
  • Motoric milestones (rolling over, sitting up) delayed or unachieved

Once Pompe disease is suspected, doctors can perform a simple blood test that can quickly and accurately confirm the diagnosis.

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Posted with permission from O2 Media.


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