What is osteogenesis imperfecta, also known as brittle bone illness?

Bone well being is and needs to be an essential side of life. There are many bone issues, and amongst them is osteogenesis imperfecta, whose important symptom is bone fragility inflicting a number of recurrent fractures, bone deformity and quick stature.

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According to Dr Sheetal Sharda, medical geneticist and director of genomics division, Neuberg Centre for Genomic Medicine (NCGM), on this illness low bone mineral density is noticed, and extra-skeletal manifestations such as bluish colouration of the eyes, irregular tooth improvement and listening to impairment can also be current.

“This rare hereditary bone fragility disorder is caused by collagen mutations in around 90 per cent of cases. In severe cases, this condition can also occur before birth. In mild cases, few fractures are seen in an individual in their entire lifetime, while in moderate cases, the person may have hundreds of fractures,” the physician says.

She provides that the illness is recognized in round 22 completely different varieties, and will not all the time be distinguished primarily based Genetic testing is essential to diagnose and describe rarer types of osteogenesis imperfecta (OI).

“Some forms are so severe, an individual’s mobility may get affected and they may have to use a walker or wheelchair. Sometimes an individual diagnosed with severe OI would have underdeveloped lungs with a small and fragile rib cage. Babies born with severe OI often have life-threatening breathing problems and survive only for a short period,” says Dr Sharda.

According to her, different varieties of gentle to average OI are medically and surgically manageable. Babies born with gentle varieties can stay wholesome lives. Unlike extra severely affected sufferers, individuals with gentle OI achieve close to to regular top with full purposeful capability.

Monitoring choices

* Screening to detect listening to loss
* Regular dental care session
* Pulmonary operate checks
* Baseline echocardiogram
* Serial screening for scoliosis to enhance the standard of life of people with OI

“Treatment aims to control symptoms, maintain individual mobility, and strengthen bone and muscle. Attention to nutrition and overall physical and psychological well-being is also significant,” says the professional, including that presently there is no treatment for OI aside from managing fractures and problems. If anybody has OI or if there is a household historical past, one should go for  genetic testing.

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