Pompe disease: symptomatology and treatment

Today, there are many different diseases that professionals rarely encounter. One of these problems is Pompe disease. What is it? This is what I want to talk about right now.

Terminology

Initially, you need to understand the basic terms. So, Pompe's disease is a rare metabolic disorder that is of genetic origin. This is an innate absence of a special enzyme, which is necessary for every person, as it helps to destroy glycogen (a source of vigor and energy). In the absence of this element, the patient accumulates too much of the above-mentioned glycogen, which causes various problems. It is also important to note that in this disease, the patient is affected by muscle fibers.

The main thing about the disease

Initially, it should be noted that the symptomatologyThis 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. The severity of the disease can be different. It depends on the age of its manifestation, as well as on the involvement of various organs and systems in the pathogenic process (most often there are respiratory, cardiac and skeletal lesions).

It is also important to note that Pompe disease is of different types. So, physicians talk about the classical and non-classical form of its course.

Symptomatic of the classic form of Pompe disease

Initially, I must say that this isthe 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 muscular weakness.
Hypotension - decreased muscle tone. Such babies often can not even lift their heads.
Cardiomegaly is an enlarged heart.
Hepatomegaly - enlarged liver.
Macroglossia is an enlarged language.
Children with this problem are poorly gain weight, have problems with physical development.
Problems with breathing.

It is worth noting that it is in this casethe most serious is the Pompe disease in children. And often in the first year of life these kids die. At first they can not lift their heads and look like a frog. All motor skills they acquire very slowly, are also able to lose them after a certain time. Often such crumbs can not learn to sit, crawl and walk. Because of muscle weakness, they gradually develop cardiopulmonary insufficiency. If you do not provide timely assistance to such a child and do not start the right treatment, the child most often dies before the onset of his first birthday.

Nonclassical form of the disease

How does the Pompe disease proceed in its non-classical form? So, initially it must be noted that it manifests itself even before the onset of the one-year-old age. In such children most often observed:

Lag in development and gaining motor skills.
Muscle weakness, which only progresses.
Cardiomegaly, heart failure may also occur.

This form of the disease is different in thatit does not flow so fast. The first symptomatology can be and is not noticed at all, as it is manifested only by muscle weakness. It is important to note that in this case it is also necessary to begin treatment as early as possible. After all, with a different scenario, a child runs the risk of dying at an early age.

Adult illness

Having examined how the children of Pompe disease(photos of kids with this disease are presented in the article), one should also talk about the symptomatology 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. The disease of Pompe in adults is much milder than in infants, but it is necessary to begin treatment as early as possible. The main symptomatology in this case:

Weak muscles, mostly the trunk and legs.
Failure of breathing, the diaphragm is damaged.
The gait changes, becomes shaky and unstable.
Pain in the muscles.
Tired of physical exercise and even climbing the ladder.
The liver, as well as the heart, increase in size.

Treatment

Considering Pompe disease, treatment is also neededto study. It is worth noting that coping with this problem is not so simple, you can not just go to the pharmacy and buy one medicine. It will take substitution therapy, when it will be necessary to replace the enzyme, called myosim. After this, the patients stop the progression of the disease, and a period of relative calm begins. It is important to note that this supportive therapy helps to maintain vigor and strength for normal functioning.