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Osteogenesis imperfecta - brittle and fragile bones

Osteogenesis imperfecta is a disease of brittle or fragile bones. It is a clinical, biochemical and genetic disease caused by abnormalities in the synthesis of collagen. The main feature of the disease is brittle and fragile bones, frequent fractures, but changes are also present in the skin, tendons, eyeballs, teeth, and blood vessels.

Some of the clinical symptoms are deafness, bluish coloration of the whites, a disorder in the development of teeth, hernias, capillary fragility, aneurysms, increased mobility in the joints and skin elasticity, etc. It occurs in 1:15.000 newborns.

There are three forms of the disease:
  • Fetal form characterized by pronounced bone fragility and many other flaws and defects. It is the rarest form of the disease.
  • Infantile form occurs later. Characterized by numerous fractures, but we find normal callus formation and fractures heal normally as in healthy children.
  • Adolescent form occurs at a later age, not before the age of five. And in this type fractures are healing well, but there is a delay in development. Some have blue sclera, and some suffer from hearing loss. The head is enlarged.

There is another qualification of the disease and it is based on clinical, x-ray and genetic criteria. By this qualification, we have the four types:

Osteogenesis imperfecta type 1

The majority of patients have type 1, which is a mild form of the disease. Characteristic phenomena are multiple fractures in smaller traumas. Fractures rarely occur in newborn infants, usually occurring during childhood to adolescence. The number of fractures is often reincreased in women after menopause and men after 60 years of age. Fractures heal with abundant callus and usually quickly without additional complications. In the mild form of the disease we usually have no major deformation and final height is approximately normal, while in severe cases we find lower growth and greater curvature of the spine.
Some patients have signs of hearing loss, which can start in adolescence, gradually deteriorating its condition to the forties, with deafness and reported tinnitus and dizziness. Deafness is more common in women.
The whites are bluish in this type of disease, and this is present during the whole life.

Osteogenesis imperfecta type 2

This form is particularly severe. The children are born with the changes in the bones, and usually die in the first months of life.

Osteogenesis imperfecta type 3

Patients with this type of disease have asymmetric shape of the head and triangular face. The peculiarity of this type is deterioration of bone. Patients exhibit low growth, have expressed kyphoscoliosis and other bone deformities that often prevent independent rotation. With this type of disease, weakness of bones with increased looseness of the ligaments can lead to greater deformities.

Osteogenesis imperfecta type 4

Type 4 differs from type 1 in that the patient’s sclera is of normal color, more affected are the mineralized tissues, and the growth is lower.

Physical therapy in patients with osteogenesis imperfecta

Physical therapy in this disease is of paramount importance for these patients. In addition to training we conduct, education is very important and parents should know how and in what way to approach this problem, and how to access the maintenance of the correct position of the child, and its daily care and exercise.

The goals we want to achieve are:
  • prevent the occurrence of deformities
  • prevent cardiorespiratory problems and avoid longer retention in the supine position.
  • provide active movement in accordance with the general situation.

Medical gymnastics must be supervised by a physiotherapist, well -dosed in accordance with the general condition of the patient. A lot can be achieved by swimming activities. Muscle strengthening and maintaining movement is the basis of the rehabilitation of these patients but requires a distinct dose of caution.

Often we perform breathing exercises. In young children and infants we should educate parents on how they can more easily handle the child and its daily activities. Carriers should be avoided, as well as scarves, and clothing that tightens or goes over her head. In particular, one should be careful when changing diapers. With one hand you hold the butt, while the child’s legs are resting on your forearm, and the other hand is used to replace diapers. You must never pull the child’s legs or hold it by them.

 

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