Comorbidities

Pompe disease patients bear a substantial burden from coexisting conditions and the ongoing need for supportive care, despite treatment with enzyme replacement therapy (ERT), a real-world study in the U.S. found. Researchers also found a relatively high rate of ERT discontinuation, particularly among people with late-onset Pompe…

Late-onset Pompe disease (LOPD), a rare, inherited muscle disorder, was finally diagnosed in a 52-year-old man in Austria after decades of misdiagnosis, a case study shows. The condition had long been hidden by overlapping symptoms of dermatomyositis, an autoimmune disorder. Only after treatment for the autoimmune disease failed to…

Sean Doerr is sometimes known in the Pompe community as the man with the ambulance-turned-motor home, which he affectionally calls the “PompeTrek.” Sean has Pompe disease and type 1 diabetes. I recently spoke with him via video chat about what it’s like living with these two chronic illnesses. Excerpts…

A newborn boy was diagnosed with both infantile-onset Pompe disease (IOPD) and sickle cell disease (SCD) in the first case study to report two co-existing genetic disorders. The boy was given enzyme replacement therapy (ERT), a standard Pompe treatment, and regular blood transfusions to prevent heart damage…

Infection by SARS-CoV-2, the virus that causes COVID-19, led to mild symptoms and no hospitalizations in people diagnosed with Pompe disease, a small Dutch study reports. However, since the patients had mild disease and were relatively young, more study is needed to assess outcomes in this population, the researchers…

Two novel mutations in the GAA gene were linked with cerebral stroke in two siblings with late-onset Pompe disease (PD), a study from China reports. The study, “GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease,” was published in the journal…

Experiencing the symptoms of Pompe disease, a rare genetic disorder resulting in muscle weakness, fatigue, developmental delays, breathing difficulties, and heart problems, can have a profound psychological impact on patients and may even lead to depression. Pompe, characterized by the buildup of a type of sugar called glycogen…

Patients with Pompe disease also may exhibit motor neuronopathy (motor and nerve deficits due to neuron degeneration) in addition to the classical myopathy (muscle disease) features, a case study suggests. Researchers suggest that future studies also should focus on therapies that target the central nervous system, and that…

Manifestations of Pompe disease — its suspected signs or symptoms — can mimic diagnostic findings of a rare type of amyloidosis, a case study reports. The report, “Pompe Disease Could Mimic Exam Findings of Amyloidosis: Two Rare Diagnoses Bona Fide,” was published in the journal, Case Reports…

Patients with late-onset Pompe disease have a lower rate of severe heart disease than those with other forms of the disease, according to a large, retrospective study. This finding suggests that these patients may be able to have less frequent heart-related follow-up exams, such as electrocardiograms (ECG) and echocardiograms (Echo).