Genetics

Electromyography (EMG) is a medical test that doctors can use to assess the health of muscles and nerves, how well they are working and communicating. An EMG may be given to diagnose late-onset Pompe disease, a rare, heritable, and progressive disorder characterized by the buildup of large sugar…

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…

People who have Pompe disease likely will need an array of healthcare specialists to help them manage symptoms of their rare genetic condition, which results from the abnormal buildup of glycogen inside cells. That buildup impairs the working of different organs and tissues, particularly the heart, respiratory,…

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…

Pompe disease is a rare disorder caused by mutations in a gene called GAA, which provides instructions for making an important enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is responsible for breaking down a sugar molecule called glycogen to provide energy to…

Two novel mutations in the GAA gene were linked with cerebral stroke in two siblings with late-onset Pompe disease (PD), a study from China reports. The study, “GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease,” was published in the journal…

Pompe disease is a rare genetic disease characterized by muscle weakness, among other symptoms. If you or your partner has Pompe disease, you may wonder whether the disease will also affect your future children. How is Pompe disease inherited? Pompe disease is inherited in a recessive pattern,…