Heart defects detected with cardiac MRI (CMR) may help diagnose classic infantile-onset Pompe disease in early childhood, a case report from China suggests. An imaging exam showed a patient’s heart ventricles — the chambers that pump blood through the bloodstream and lungs — were enlarged, along with fibrosis (scarring).
MRI
Pompe disease patients show severe impairments in diaphragm motion, the major muscle of respiration, when compared with those who have other muscle disorders or motor neuron diseases, a small study reports. The study, “Diaphragmatic dysfunction in neuromuscular disease, an MRI study,” was published in the journal Neuromuscular…
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…
People with late-onset Pompe disease (LOPD) show significant increases in the amount of muscle replaced by fat while on treatment, which is linked to reduced muscle strength and motor function, according to a new study. These findings support the use of muscle imaging to assess…
Muscle strength and function measurements in people with late-onset Pompe disease (LOPD) correlate with whole-body magnetic resonance imaging (WBMRI) results, a new study suggests. The study, “Whole‐body MRI in Late‐onset Pompe Disease: Clinical utility and correlation with functional measures,” was published in the Journal of Inherited Metabolic…
Magnetic resonance imaging (MRI) seems to be an effective and efficient tool to evaluate muscular status and monitor patients with late-onset Pompe disease (LOPD), according to researchers. Their study, “Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study,” was published in the…