There may be times of the day and of life when certain events or concerns affect our balance. You can be thoughtful, nervous, and have particular symptoms. Stomach cramps, high blood pressure, diarrhea, and insomnia can sometimes be experienced. After some time and perhaps solved the problem, an exam, a job interview or other, we return to feel good and to be relaxed.
Unfortunately, it can happen that more and more frequent illnesses can occur that lead to alarm without a specific external cause. There is a disease that generates various symptoms in adults. Muscle weakness and shortness of breath after physical exertion, for example, are some red flags along with a daytime sleepiness or headache especially in the morning. This disease can also be detected early enough in newborns or can give progressive symptoms after the first year and sometimes, in fact, in adulthood. We are talking about type II glycogenosis, called Pompe disease. The child born with this genetic pathology has problems eating, weighs little and has a strong weakness.
Muscle weakness and shortness of breath with headache and sleepiness could be symptoms of this uncommon disease
Symptoms of Pompe disease appear to be quite common, but the cause is infrequent. Pompe disease, of genetic origin, could affect both males and females. The cause is the total or partial absence of an enzyme, acid alpha-glucodisase (GAA), which has the task of breaking down glycogen into glucose, a simple and digestible sugar, the main source of energy. The accumulation, therefore, of glycogen in the cells of various parts of the body, especially in the muscles of the arms, legs, heart and those related to breathing, would lead to ever greater difficulties.
Since it manifests itself with symptoms that can lead to various types of diagnosis, it can be highlighted thanks to a blood sample. After the necessary investigations by the doctor, those suffering from type II glycogenosis could, at the moment, undergo an enzyme replacement therapy. In affected patients, with the help of various specialists, Pompe disease can be countered and slowed down. Among these, cardiologists, pulmonologists, therapists. Furthermore, studies are underway on a possible effective gene therapy. In conclusion, it must be said that Pompe disease in Italy is on the list of rare diseases and those affected by it would be entitled to exemption from the ticket.