diagnosis

A woman in her 30s with severe respiratory failure and muscle weakness due to late-onset Pompe disease (LOPD) repeatedly experienced misdiagnoses of anxiety attacks — with “multiple admissions in the psychiatric sector with anxiety disorder” — before genetic testing eventually led to a correct diagnosis, according to a Danish…

Combining a symptom-based scoring tool with healthcare provider education may help identify patients who have an increased risk of having a missed diagnosis of late-onset Pompe disease (LOPD), a study in the U.S. shows. A LOPD diagnosis should be considered in patients with progressive muscle weakness and at least…

Young patients with late-onset Pompe disease (LOPD) who do not yet show disease symptoms should be regularly monitored for timely identification of symptoms so that treatment can be started early, a study suggested. Current diagnostic procedures enable early diagnosis of LOPD even in pre-symptomatic stages, said the researchers, who…

In this column, I’m introducing what I call “The Pompe Community Diaries,” a series that will follow the journeys, musings, and challenges of the fellow Pompe disease patient community. I’ll collaborate with community members to share their voices and day-to-day experiences over time. It’s a space meant to foster…

Last year, the team at Pompe Disease News brought our readers news on the most recent scientific advances, treatment progresses, and clinical trials for Pompe disease. Here are the 10 most read stories we published on Pompe disease during 2024. No. 10 – Switch from Lumizyme to Nexviazyme…

Some individuals with limb-girdle muscular weakness, a hallmark symptom of a type of muscular dystrophy, may instead be found to have Pompe disease by genetic panel testing, according to a new study with data from more than 2,000 patients in 21 countries. That testing used next-generation sequencing, or NGS,…

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…

Among almost 3,000 people with symptoms consistent with Pompe disease, fewer than 40 were found to carry genetic mutations known to cause the rare condition and receive a confirmed diagnosis, according to the findings of a new study that researchers say highlights the challenges of diagnosing Pompe. Importantly, the…

Three genes related to the regulation of immune responses — GPNMB, CALML6, and TRIM7 — show abnormal activity in immune cells infiltrating the muscles of people with infantile-onset Pompe disease, according to a new study from researchers in China. All three were found to be associated with regulatory T-cells, a…

A two-step process used to screen thousands of people with suspected Pompe disease led to diagnoses of the rare genetic condition in more than 700 individuals across 50-plus nations, a new retrospective study reports. The researchers used both biochemical and genetic testing to analyze more than 30,000 blood-spot…