symptoms

A lung function test called intrabreath oscillometry may detect abnormalities related to late-onset Pompe disease (LOPD) that standard breathing tests would miss, a new study shows. Findings suggest that intrabreath oscillometry may be more reliable than a standard test called spirometry at detecting weakened chest muscles in people with…

Heart problems in late-onset Pompe disease appear milder and less specific than in the disease’s infantile-onset form, a review study found. While heart scans can detect these changes, further research is needed to fully understand them, according to the researchers, who reviewed data from 11 previous studies. “Knowledge of…

For people with late-onset Pompe disease (LOPD) who are diagnosed before developing symptoms, treatment can be delayed until signs of the condition become apparent, but regular monitoring is essential so that therapy is not delayed when it is needed. That’s the argument made by a team of scientists in…

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…

The buildup of the complex sugar glycogen, the main cause of muscle damage in late-onset Pompe disease (LOPD), can be detected in people with the condition long before visible symptoms appear, researchers in Denmark found. Using an advanced imaging technique capable of measuring glycogen inside muscles —a test that…

A simple, noninvasive breathing intervention that briefly exposes the body to repeated bouts of low oxygen modestly improved breathing in a mouse model of Pompe disease, a study showed. Therapeutic acute intermittent hypoxia (tAIH) led to small but measurable increases in breathing rate, breath size, or the amount of…

A newborn whose symptoms initially mimicked oxygen deprivation was ultimately diagnosed with Pompe disease, highlighting potential challenges in identifying the condition, according to a case report from Italy. This was an uncommon presentation, according to researchers, who described the child’s symptoms, which included an enlarged heart and weak…

Reduced activity of the COL13A1 gene, which codes for a protein involved in the communication between nerves and muscles, may contribute to the neuromuscular dysfunction and muscle weakness seen in people with Pompe disease, a new study suggests. This gene’s activity seems to be mediated by levels of glucose…

A 43-year-old woman who was experiencing breathing problems and muscle weakness was eventually diagnosed with late-onset Pompe disease (LOPD) through genetic testing, highlighting the challenges of diagnosing the condition due to its rarity and nonspecific symptoms, according to a study. “It is important to consider late-onset Pompe disease in…

Researchers defined a threshold for improvements in lung function that adults with late-onset Pompe disease (LOPD) perceive as clinically meaningful when treated with enzyme replacement therapies. A study found that when thresholds were applied to data from the Phase 3 COMET study, more Pompe patients treated with the…