diagnosis

Nystagmus, a condition in which the eyes move rapidly and uncontrollably, may be a feature of infantile-onset Pompe disease, a new case report suggests. The report, “Nystagmus in Infantile Pompe Disease: a new feature?” was published in the journal Acta Bio Medica. Pompe…

Whole-body MRI found that a muscle in the shin is affected early on in children with either infantile or late-onset Pompe disease, a study shows. Such findings suggest earlier deterioration of this muscle, called tibialis anterior, in patients with more severe forms…

Newborn screening for Pompe disease can help improve outcomes for babies and prevent a long diagnostic journey. Following is some information about newborn screening and how it can help the children and their parents. About Pompe disease Pompe disease is a rare genetic disease. It is characterized by…

It took one year for Dona Krystosek to get a diagnosis for her son, Levi, after he was born. The family received three misdiagnoses of fatal diseases until they found out Levi has Jansen’s metaphyseal chondrodysplasia — an extremely rare form of dwarfism.   “The hardest…

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…

Pompe disease is a multisystem disorder that affects about one in 40,000 people in the U.S. Raising awareness about this rare genetic disease could mean more patients would benefit from earlier diagnosis and treatment. Here are some facts about Pompe disease, and efforts to make it…

A skin biopsy is one of the tests that doctors can use to help diagnose Pompe disease, a rare genetic disease characterized by the buildup of complex sugar molecules called glycogen in muscle and other tissues. This buildup may interfere with function and cause the symptoms…

Spirometry is a common medical test that you can take at your local hospital or clinic to evaluate how well your lungs are working. In late-onset Pompe disease, doctors can use spirometry to track disease progression. What is late-onset Pompe disease? Pompe disease is a rare,…

Electromyography (EMG) is a medical test that doctors can use to assess the health of muscles and nerves, how well they are working and communicating. An EMG may be given to diagnose late-onset Pompe disease, a rare, heritable, and progressive disorder characterized by the buildup of large sugar…

One test that doctors use to diagnose Pompe disease, a rare genetic disease caused by mutations in the GAA gene, is an enzyme activity test. GAA provides cells with the instructions necessary to make an enzyme that plays a role in breaking down a complex sugar molecule called…