non-classic infantile-onset

Whole Body Vibration Improves Muscle Mass, Movement in 3 Pompe Children

An intervention involving whole body vibration therapy showed promise for improving movement ability and muscle composition in a small study involving three children with non-classic infantile-onset Pompe disease. The study, “Vibration assisted rehabilitation in patients with Pompe disease: A case series,” was published in the…

Support Groups for Pompe Disease and Their Importance

Rare and chronic conditions such as Pompe disease can take an emotional toll on patients and caregivers on top of everything else. Between symptoms such as muscle weakness and fatigue, and feelings of isolation, coping can be a challenge. It may seem as if hardly anyone understands what…

Planning for the Future if Your Family Is Affected by Pompe Disease

Receiving a Pompe disease diagnosis for you or your child can come as quite a shock. But now that you know, you may want to start planning for the future. Types of Pompe disease There are three main types of Pompe disease, each with different ages of onset…

Extended Database Links Pompe Mutations to Predicted Clinical Severity

A database with mutations associated with Pompe disease has been extended and links different gene variants with their potential clinical severity to better predict outcomes. The study, “Extension of the Pompe mutation database by linking disease-associated variants to clinical severity,” appeared in the journal Human…