Today, there are many different diseases that professionals rarely encounter. One such problem is Pompe disease. What is it? I would like to talk about this 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 the congenital absence of a special enzyme, which is necessary for every person, as it contributes to the destruction of glycogen (a source of energy 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.
The main thing 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 maturity. However, all patients go one way: 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. Everything depends on the age of its manifestation, as well as on the involvement of various organs and systems in the disease process (most often there are respiratory, cardiac and skeletal lesions).
It is also important to note that Pompe disease is of various types. So, doctors talk about the classical and non-classical form of its course.
Symptoms of the classic form of Pompe disease
Initially, it must be said that this is the most severe and 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.
- Hypotension - decreased muscle tone. Such babies most often cannot even raise their heads.
- Cardiomegaly is an enlarged heart.
- Hepatomegaly is an enlarged liver.
- Macroglossia is an enlarged language.
- Children with this problem are poorly gaining weight, have problems with physical development.
- Trouble breathing.
It is worth noting that in this case, the most difficult is Pompe disease in children. And often 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 able to lose 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 you do not provide timely assistance to such a baby and do not start the right treatment, the child most often dies before his first birthday.
Nonclassical 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 age of one. In these children, most often observed:
- Lag in the development and acquisition of motor skills.
- Muscle weakness that is only progressing.
- Cardiomegaly, heart failure may also occur.
This form of the disease is different in that it does not proceed so swiftly. The first symptomatology may not be noticed at all, as it manifests itself only as muscle weakness. It is important to note that in this case it is also necessary to start treatment as soon as possible. Indeed, with a different scenario, the child runs the risk of dying at an early age.
The course of the disease in adults
Having examined how Pompe
disease occurs in
children (photos of babies with this disease are presented in the article), we also need to 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 occurs 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 of the trunk and legs.
- Failures in breathing, damage to the diaphragm.
- The gait changes, becomes shaky and unstable.
- Pain in the muscles.
- Fatigue from physical exertion and even from climbing stairs.
- The liver, as well as the heart increase in size.
Treatment
When considering Pompe disease, treatment also needs to be explored. It is worth noting that to cope with this problem is not so simple, you can not just go to the pharmacy and buy one medicine. Substitution therapy will be needed when it is necessary 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 supportive therapy helps to maintain vigor and strength for normal life.