Today there are many different diseases that professionals rarely encounter. One such problem is Pompe disease. What is it? This is what I want to talk about now.
Terminology
Initially, you need to understand the basic terms. So, Pompe disease is a rare metabolic disorder that has a genetic origin. This is a congenital absence of a special enzyme that every person needs, as it contributes to the destruction of glycogen (a source of vigor and energy). In the absence of this element, the patient accumulates too much of the aforementioned glycogen, which causes various problems. It is also important to note that with this disease, the patient's muscle fibers are affected.
Basic about the disease
Initially, it should be noted that the symptoms of this disease can occur at any time and at any age, from infancy to adulthood. However, all patients go through the same path: the gradual accumulation of glycogen in the body, which invariably leads to muscular dystrophy. In this case, the severity of the disease can be different. It all depends on the age of its manifestation, as well asfrom involvement in the pathogenic process of various organs and systems (most often there are respiratory, cardiac and skeletal lesions).
It's also important to note here that there are different types of Pompe disease. So, doctors talk about the classical and non-classical form of its course.
Symptoms of classic Pompe disease
Initially, it must be said that this is the most severe and most life-threatening form of the disease. Most often, it manifests itself at the very beginning of a person’s life, especially in the first six months. In this case, it is customary to talk about such symptoms:
- Myopathy is a pronounced muscle weakness.
- Hypotonia - low muscle tone. Such children most often cannot even raise their heads.
- Cardiomegaly - enlarged heart.
- Hepatomegaly - enlarged liver.
- Macroglossia is an enlarged tongue.
- Children with this problem do not gain weight well, have problems with physical development.
- Breathing problems.
It is worth noting that it is in this case that Pompe disease in children is most severe. And often even in the first year of life, these babies die. At first they cannot raise their heads and look like frogs. They acquire all motor skills very slowly, they are also capable of losing them after a certain time. Often, such crumbs cannot learn to sit, crawl and walk. Due to muscle weakness, they gradually develop cardiopulmonary failure. If notto provide timely assistance to such a baby and not start the right treatment, the child most often dies before his first birthday.
Non-classical form of the disease
How does Pompe disease proceed in its non-classical form? So, initially it should be noted that it manifests itself even before the onset of one year of age. These children most often observed:
- Delay in development and acquisition of motor skills.
- Muscle weakness that is only getting worse.
- Cardiomegaly, heart failure can also occur.
This form of the disease is different in that it does not proceed so rapidly. The first symptomatology may not be noticed at all, since it is manifested only by muscle weakness. It is important to note that in this case it is also necessary to start treatment as early as possible. Indeed, in a different scenario, the child risks dying at an early age.
The course of the disease in adults
Having considered how Pompe disease occurs in children (photos of babies with this disease are presented in the article), we must also talk about the symptoms of this problem in adults. So, initially it should be noted that the first signs of the disease appear closer to the end of adolescence, and sometimes later. Pompe disease in adults is much milder than in infants, but treatment should be started as early as possible. The main symptoms in this case:
- Muscle weakness,mainly torso and legs.
- Breathing failures, diaphragm damage occurs.
- Gait changes, becomes wobbly and unsteady.
- Pain in the muscles.
- Tired from strenuous exercise and even from climbing stairs.
- The liver and also the heart increase in size.
Treatment
When considering Pompe disease, treatment also needs to be explored. It is worth noting that it is not so easy to deal with this problem, you can’t just go to the pharmacy and buy one medicine. You will need replacement therapy when you need to replace an enzyme called myozyme. After that, the progression of the disease stops in patients, and a period of relative calm sets in. It is important to note that this maintenance therapy helps to maintain vigor and strength for normal life.
