symptoms

Scientists have discovered a genetic variant that might help explain why some people with Pompe disease experience their first symptoms earlier or later in life. The study, “A genetic modifier of symptom onset in Pompe disease,” was published in EBioMedicine. Pompe disease is a rare genetic…

Chinese patients with late-onset Pompe disease develop symptoms and are diagnosed at least 10 years earlier than patients from other areas of the world, a Pompe disease registry shows. The study, “Characteristics of Pompe disease in China: a report from the Pompe registry” was published in the journal…

New genetic mutations and uncommon clinical symptoms, including skeletal alterations and developmental delay, were linked to juvenile-onset Pompe disease in three rare cases, making early recognition of these anomolies an important step to providing the best care for these patients, a study says. The cases were described by researchers from…

Patients with late-onset Pompe disease demonstrated a deterioration in voice quality over a period of three years, but early treatment may stop this progressive impairment, a study reports. The study, “Follow-up analysis of voice quality in patients with late-onset Pompe disease,” was published in the Orphanet Journal…

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…

Frequent inspiratory muscle training — a set of breathing exercises to strengthen the respiratory muscles making it easier to breathe — enhanced the breathing capacity of late-onset Pompe disease patients with insufficient respiratory function, a small pilot study has found. The study, “Safety and efficacy of short- and long-term…

Most patients with juvenile- and adult-onset Pompe disease have difficulties coughing that put them at an increased risk for respiratory problems, but few of them incorporate techniques of pulmonary hygiene into their daily routines, a small study suggests. The study, “Cough Effectiveness and Pulmonary Hygiene…

Lower activity of the two lysosomal enzymes underlying Pompe and Fabry diseases — acid alpha-glucosidase enzyme (GAA) and alpha-galactosidase A (GLA) — is linked to dilated arteries in the brain, a preliminary study reports. The study, “Association of Low Lysosomal Enzymes Activity With Brain Arterial Dilatation,” was…

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).

Patients with Pompe disease may develop structural changes in the basilar artery — an important artery that supplies oxygen to the brain — that may affect their risk for cerebrovascular complications, such as stroke. The study with that finding, “Decreased outlet angle of the superior cerebellar artery as indicator…