Pompe disease is inherited when a person receives two mutated copies of the GAA gene, one from each biological parent. A person with only one mutated copy of the GAA gene is called a Pompe disease carrier. These people will not develop the disease, but may pass the Pompe-causing mutation to their biological children.
Life expectancy for children with classic infantile-onset is the shortest, often resulting in death due to cardiac and respiratory failure before age 2 if the child doesn’t receive adequate treatment. People with late-onset Pompe disease have the longest life expectancy, and often live until late adulthood.
Adults with late-onset Pompe disease can drive a motor vehicle, as long as their muscle weakness hasn’t progressed to the point of not being able to control the vehicle.
Pompe disease is characterized by symptoms that include progressive respiratory and skeletal muscle weakness. The symptoms are most severe in the classic infantile-onset form of the disease, and least severe in the late-onset form.
Exercise is recommended for those living with late-onset Pompe disease, from breathing exercises to yoga, resistance training, swimming and more, depending on the ability and interest of the person.