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Known as crystal bone disease, called osteogenesis imperfecta, is a genetic and incurable disorder that affects the bones of the body causing its rupture without any cause that provokes it and with great ease at the slightest blow, the muscles are also sometimes affected as they become weak.
Sometimes people who suffer crystal bone disease hearing may also be affected, causing deafness. In addition, this disease persists throughout the life of the person who suffers it, although sometimes the number of fractures may decrease after adolescence.
Osteogenesis imperfecta It is produced by a genetic alteration that affects the production of collagen in the human body, which directly affects the fragility of the body's bones. If it is not diagnosed, it can sometimes lead health professionals to suspect that the patient may be suffering child abuse due to the frequent fractures and bruises it causes.
exist 17 different types of crystal bone disease varying from mild to severe depending on the symptoms that the child presents, which may be:
- Weakness in the joints and muscles and respiratory problems.
- Short stature and small body.
- Brittle teeth, triangular face, frequent bruising.
- Scoliosis or bulging rib cage.
The diagnosis is clinical, although genetic tests can also be done. Sometimes it can be detected around the 16th week of gestation by means of a perinatal ultrasound that allows detecting possible fractures and incrustations of the limbs.
Osteogenesis imperfecta has no cure So there is no treatment to fight it, although preventive measures can be carried out so that the damage is less, such as leading a healthy lifestyle by exercising to keep muscles strong, maintaining a balanced diet and increasing bone density .
The care will depend on the degree of affectation. Neonatal care is essential in newborns and early mobilization to avoid the tendency to decrease bone density.
In children with crystal bone disease, it is important to start physical therapy as soon as possible to strengthen bones and muscles, thus helping to reduce the number of fractures.
Cristina González Hernando. Editor of our site
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