Weight gain is something my 6-year-old son, Cayden, has struggled with his whole life. He had difficulty eating as a newborn because of his weak sucking and swallowing muscles — a direct result of his infantile-onset Pompe disease. When he was a month old, his medical team decided it…
Causes
Mitochondria dysfunction is linked to hypertrophic cardiomyopathy — when the heart becomes enlarged and cannot pump blood efficiently — in people with Pompe disease, according to a new study from China. The disease-causing mechanisms were explored in a patient-derived heart cell model with characteristics of Pompe disease, including low…
Motor problems in people with Pompe disease may be explained by damage to muscle spindles, which are sensory receptors that detect muscle movement and help regulate muscle tone and maintain posture, a mouse study suggested. Muscle spindle structure and function were “severely compromised” in Pompe mice, resulting in a…
A number of enzymes involved in synthesizing glycogen – the molecule that accumulates to toxic levels in Pompe disease – are elevated in a mouse model of the disease and these metabolic changes may contribute to the disease’s progression, a study found. In fact, the buildup of these proteins…
A Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave. The treacherous, 34-hour pilgrimage that ultimately brought the group of eight by car to temporary accommodations in neighboring Poland last month was physically and emotionally difficult,…
Football and science seem to be disparate fields of play at first glance, but the nonprofit Uplifting Athletes is finding common ground by leveraging the popularity of college gridiron games to fund research for rare diseases. Its nearly two dozen chapters — representing college football teams across the nation…
The same common GAA gene variants that cause Pompe disease can lead to symptoms first appearing at very different ages, and this may be due to factors that modify how genes work, a study of a global database suggests. These findings “will be important for diagnosis, genetic counseling, decision making…
Based on a literature and database analysis, the predicted genetic prevalence of disease-related variants in the GAA gene — the underlying cause of Pompe disease — is higher in the Korean population than in Japanese, a study indicates. The study, “Two Approaches for a Genetic Analysis…
Four new mutations in the GAA gene have been identified in a group of people with late-onset Pompe disease (LOPD), according to a study in Spain. The study “Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants” was published in the Orphanet…
Health Insights
Reproductive Options if You Are a Pompe Disease Carrier
If you are a carrier of Pompe disease, you may be wondering about the risks of passing the disease to your children. A carrier has one copy of a disease-causing mutation but does not have the disease themselves. If your partner is not a carrier of a…
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