Genetics

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…

Pompe disease is a rare genetic disease characterized by symptoms such as muscle weakness, scoliosis, and heart problems. Dealing with these symptoms can be very stressful, and patients and caregivers usually need a lot of support. Here are a few ways to find more information about Pompe…

Pompe disease is a rare genetic disease in which a type of complex sugar molecule called glycogen builds up within cells and affects their proper function, leading to problems in many organs, especially the heart. All Pompe disease patients have heart-related symptoms, but the risk of heart failure…

Natural genetic variations, or polymorphisms, in the ACE gene do not account for the large variability in disease course, or the response to enzyme replacement therapy (ERT) observed among children and adults with Pompe disease, a study suggests. More research is needed to identify the…

A new study reports the genetic and clinical characteristics of 113 U.S. children who have Pompe disease, the largest such group that has been uniformly assessed in this manner. In addition to revealing four previously unreported disease-causing mutations, the data may help researchers and clinicians better understand the associations between…

A database with mutations associated with Pompe disease has been extended and links different gene variants with their potential clinical severity to better predict outcomes. The study, “Extension of the Pompe mutation database by linking disease-associated variants to clinical severity,” appeared in the journal Human…

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…

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…

G71.01 is, literally, the code for Duchenne muscular dystrophy.  Q93.51 stands for Angelman syndrome, and G40.419 covers generalized and treatment-resistant epilepsies, which groups like Orphanetdefine as including Dravet syndrome. All three designations became official on Oct. 1, 2018, joining some 70,000 other diseases listed in the latest…

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…