diagnosis

Measuring the urinary levels of a particular sugar molecule called tetraglucose (Glc4) could be useful for diagnosing Pompe disease, a study from France suggests. The study, “Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort,” was published…

If you are at risk of transmitting Pompe disease to your children, you may be thinking about your reproductive options and interested in prenatal diagnostic testing. What is prenatal diagnosis? Prenatal diagnosis involves performing a genetic test on your baby before birth. Getting genetic material from…

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…

Genetic testing looks for changes in genes and chromosomes that might indicate you have a genetic disease such as Pompe disease. Genetics of Pompe disease Pompe disease is caused by mutations in the GAA gene. These mutations lead to your cells not being able to properly make…

If you, your partner, or anyone else in the family has Pompe disease, you may wonder whether the disorder also will affect your future children. Genetic counseling can help you calculate the risk and help you with genetic testing and family planning. What do genetic counselors do? Genetic…

Urinary levels of a proposed Pompe disease biomarker known as Glc4 are higher in patients with either infantile-onset or late-onset forms of this disorder compared to healthy individuals in the Turkish population, a study shows. As Glc4 (or glucose tetrasaccharide) levels vary with age, identifying appropriate reference…

Increased awareness of late-onset Pompe disease (LOPD) is crucial to shorten the delay in diagnosis and start appropriate treatment as early as possible, a study says. The study, “Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures,” was published in the…

Axovant Gene Therapies is collaborating with Invitae to offer free genetic testing in the United States and Canada to children suspected of having a lysosomal storage disease. The Axovant sponsorship is meant to help bring down barriers to genetic diagnoses and counseling for lysosomal storage diseases…

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…

Ultrasound could help evaluate diaphragm and respiratory function in people with late-onset Pompe disease (LOPD), a study suggests. The study, “Ultrasound assessment of diaphragm function in patients with late-onset Pompe disease,” was published in the journal Neurological Sciences. LOPD is a genetic disorder…