Osteogenesis Imperfecta (OI)

Osteogenesis imperfecta is a group of genetic disorders that affect bones. OI term also
means abnormal deficiency bone formation and it is also called brittle bone disease. The
estimated incidence of OI varies between 3 to 5 in 10000 worldwide. However, some moderate
cases of OI may remain undiagnosed.
OI is inherited in a child from one or both of his or her parents. Normally, we have two genes
(LOA1A1 & LOA1A2) responsible for making type 1 collagen which is part of the protein to
support and strengthen many tissues and bone is one of them. Unfortunately, patients with
osteogenesis imperfecta have a mutation in those genes that makes them have extremely
fragile bones that fracture easily often from normal movement or small trauma.
There are 8 different types of OI with varying cases and symptoms, the first 4 types are more
common and have less severity. There are various symptoms from person to person even
among the same family but the main symptoms of OI are bone fractions, bone deformity,
muscle weakness, blue or gray sclera (white of the eye) color, curved spinal, soft teeth, hearing
loss, and triangle-shape face. To diagnose this disease we have a genetic test or clinical
diagnosis, x-ray, and also use bone biopsy.
As a result, treatments are only to prevent or control symptoms, there are no medicals used
to avoid or stop this disease. Some treatment strategies are physical therapy, surgical
operations, fracture care, and analgesic medication.
To conclude, brittle disease is a rare genetic condition but it has harsh signs and symptoms,
especially in children. Some symptoms can be extremely hard and fatal due to the pressure on
the respiratory system.