Osteogenesis Imperfecta - How It Happens?

Osteogenesis Imperfecta (OI) is a group of genetic disorders that primarily affect the bones, making them extremely weak. It is also known as ‘brittle bones disease’. This genetic disease is incurable and the treatment is primarily focused on pacifying the condition by reducing pain and strengthening the bones.

The symptoms of OI include, but are not limited to, recurring fractures, bluish tinge in the white of the eyes, hearing loss, breathing problems, short height, loose joints and dental problems. There is no definitive test for OI but doctors recommend certain scans and DNA testing before confirming their diagnosis.

What Causes Osteogenesis Imperfecta?

Osteogenesis Imperfecta is caused by genes that are not functioning properly. These genes can be inherited from one or both of the parents, although there have been cases in which neither parent gives the bad genes. These bad genes inhibit the production and functioning of collagen (the skin’s building block); a material found in bones and is responsible for making them strong. Low amounts of collagen lead to weakening of bones, which get fractured easily or sometimes without any reason at all.

Treatment of Osteogenesis Imperfecta

Osteogenesis Imperfecta is an incurable disease. The treatment for this disease focuses on reducing the pain and strengthening the bones of the patient so that he/she may lead a somewhat normal life. The treatment of OI depends on how severe it is. There are 8 types of Osteogenesis Imperfecta. Types 2, 3, 7 and 8 are considered severe while types 4, 5 and 6 are considered moderate. Type 1 is considered to be least severe. The treatment includes:

• The drug ‘Bisphosphonate’ can be used to increase bone mass and reduce bone pain and fracture.
• Surgery can be carried out to improve the bone structure. Surgery can also be used to insert metal rods in the long bones in order to strengthen them.
• Physiotherapy can be used to increase bone and muscle strength and also to improve mobility.