Best Osteogenesis Imperfecta Doctors in Mysore

Osteogenesis Imperfecta (OI) is a genetic disorder that primarily affects bones, making them unusually brittle and prone to fractures. Commonly known as 'brittle bone disease', it involves imperfect bone formation and a heightened susceptibility to fractures even from minor trauma. Mutations in genes like COL1A1 and COL1A2, which are vital for producing type I collagen, are often associated with this condition.

Apollo Hospitals in Mysore host some of the best doctors specialising in treating osteogenesis imperfecta. They are committed to providing comprehensive care for patients suffering from this condition.

Types/Stages of Osteogenesis Imperfecta

Osteogenesis Imperfecta manifests in various forms, distinguished by their characteristic features:

• Type I: Type I OI is the mildest form, characterised by frequent fractures from minimal trauma, normal bone shape, increased bone fragility, blue sclerae, and a generally normal or near-normal height.

• Type II: This is the most severe type, leading to multiple fractures at birth, severe respiratory issues from underdeveloped lungs, and significant bone deformities. It is often fatal, with survival beyond infancy being rare.

• Type III: Characterised by abnormally formed collagen, Type III results in multiple fractures, significant bone deformities, short stature, a barrel-shaped chest, and scoliosis.

• Type IV: Similar to Type III, it varies in severity, and patients experience frequent fractures, moderate to severe bone deformities, potential short stature, adult-onset hearing loss, and dental problems.

Symptoms of Osteogenesis Imperfecta

The symptoms of osteogenesis imperfecta vary significantly among patients and include:

• Frequent bone fractures

• Abnormal bone shape

• Blue or grey tint in the eyes (blue sclerae)

• Hearing loss in adulthood

• Short stature

• Loose joints or hypermobility

Tests to Diagnose Osteogenesis Imperfecta

Doctors specialising in Osteogenesis Imperfecta treatment perform several tests to confirm the diagnosis:

• Physical examination: This involves evaluating physical signs such as bone deformities, joint laxity, and the presence of blue sclera, which are characteristic features of OI.

• Medical history: A thorough medical history, especially regarding family OI history or recurrent fractures, helps recognise patterns and the genetic implications of the disorder.

• Genetic testing: Genetic testing confirms OI by identifying mutations in collagen-producing genes like COL1A1 and COL1A2, which disrupt collagen formation and cause bone fragility.

Treatment or Surgery Options for Osteogenesis Imperfecta at Apollo Hospitals, Mysore

Apollo Hospitals in Mysore offer a variety of treatments with the help of doctors adept at treating osteogenesis imperfecta:

• Bisphosphonate therapy: This involves medications that enhance bone density and minimise fracture risk by inhibiting bone resorption, thereby strengthening bones.

• Physical therapy: This involves tailored exercises to enhance muscle strength, improve flexibility, and promote overall mobility.

• Bracing: Orthotic devices like braces or splints stabilise bones and joints, providing support, reducing pain, and improving alignment.

• Surgical procedures: Rodding (inserting metal rods into long bones for support and fracture prevention) or corrective surgeries ( to improve bone alignment, and enhance mobility and quality of life ) are performed by surgeons specialising in osteogenesis imperfecta to address severe bone deformities.

• Dental and hearing care: Dental devices, such as crowns or braces, address tooth decay and malocclusion. Hearing aids manage hearing loss related to abnormalities in the middle ear or auditory nerve.

Apollo’s best specialists treating osteogenesis imperfecta provide personalised treatment plans, tailored to each patient's specific needs and the severity of their condition.