symptoms

One of the symptoms of Pompe disease is muscle weakness. Due to this, many children who have been diagnosed with infantile-onset Pompe disease will be required to wear some type of orthotic braces that are specially designed by an orthotist. When my son, Cayden, was about 15 months old,…

Fat replacement of back, abdominal, and trunk muscles in late-onset Pompe disease (LOPD) correlates with diaphragm weakness and worsening respiratory function, a long-term clinical study has determined. “These results suggest that identification of fat replacement in these areas … should…

A large-scale analysis of the proteins and lipids found in the blood of people with Pompe disease showed significant changes involving inflammatory responses and the suppression of cellular processes such as immune function and lipid metabolism, a study reported. These findings…

A chest MRI can be used to detect early signs of respiratory muscle weakness in people with Pompe disease, even when lung function is still within a normal range, a study reported. According to its investigators, the findings highlight the importance of these imaging tests to rapidly identify patients…

Hearing loss is a very common for infants with Pompe disease. It may also affect some people who develop Pompe disease later in life. Here is information about how hearing works, how Pompe disease can cause problems with hearing, and how doctors diagnose and treat hearing loss in these patients.

Patient-reported outcomes — particularly those related to general physical and arm function — effectively reflect disease severity in people with late-onset Pompe disease as assessed with validated clinical measures, a study suggests. Selected outcomes, part of the Patient-Reported Outcomes Measurement Information System (PROMIS), were found to represent the…

If you have late-onset Pompe disease, you likely will need to see many specialists such as pulmonary physicians, cardiologists, and physiotherapists to help you manage the disorder’s different symptoms. To help with muscle weakness and other Pompe disease-related symptoms, it also may be beneficial to add a massage…

Pompe disease is a rare, progressive, neuromuscular genetic disorder characterized by muscle damage and weakness. Fatigue, excessive daytime sleepiness, and sleep disturbances are common, especially in the late-onset form of the disease. How Pompe disease may affect sleep As Pompe disease progresses, the abnormal buildup of glycogen — sugar molecules…

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…

If you have late-onset Pompe disease, you’re likely dealing with muscle weakness, aches, and cramps, and possibly headaches and fatigue. Many people may not understand how overwhelming all this can be, and it may not always be easy to explain. However, an analogy called the spoon theory can help…