Also known as Brittle bone disease
ABOUT THE DISEASE
Osteogenesis imperfecta (OI) is a genetic disease that causes weak and fragile bones that break easily. The bones often break for no apparent reason. It can also cause many other problems such as weak muscles, brittle teeth, and hearing loss. The range of severity may vary.
SYMPTOMS
- • Bone deformity
- • Short stature
- • Loose joints
- • Muscle weakness
- • Blue Sclera
- • Triangular face
- • Barrel-shaped rib cage
- • Curved spine
- • Brittle teeth
- • Hearing loss (often starting in 20s or 30s)
- • Breathing problems
CAUSES
Osteogenesis imperfecta (OI) is a congenital disease, meaning it is present at birth. It is frequently caused by a defect in the gene that produces type 1 collagen, an important building block of bone. It is an autosomal dominant disease. Most cases are inherited from a parent, although some are the result of new genetic mutation. A person with OI has a 50% chance of passing on the gene and the disease to their children.
DIAGNOSIS
- Physical Examination
- X ray
- Collagen biopsy test
- DNA test
TREATMENT METHODS
While there is no cure for osteogenesis imperfecta, there are ways to improve the quality of life by preventing or controlling the symptoms, maximizing independent mobility, and developing optimal bone mass and muscle strength, through medical and surgical options that include -
• Medication like bisphosphonates
• Immobilization- Casting, bracing, or splinting fractures is necessary to keep the bones still and in line so that healing can occur.
• Exercise
• Surgery – like Rodding, Spinal fusion, etc may be needed in case of repeated or non healing fractures, bone deformity like scoliosis, etc.
You may also like to learn about:
Fracture
Osteoporosis
Rickets
Achondroplasia
Bone deformity
Osteomalacia