Osteogenesis imperfecta, aka brittle bone disease, is a genetic disorder caused by a gene mutation for Type I collagen production. Collagen is an important part in making your bones strong. Therefore, with this disease your bones are fragile and break easily.
Usually osteogenesis imperfecta is an inherited disease. Although, brittle bone disease causing mutations can be random. And why this disease is called osteogenesis imperfecta is because it translates into imperfect bone formation.
The primary symptom of osteogenesis imperfecta is fragile bone breaking for little or no reason. Depending on your severity, you could conceivably have in an excess of a hundred bone fractures in your lifetime.
In addition to brittle bone breaking, some of the other symptoms caused by this disease are:
- scoliosis
- bone pain
- bowed legs
- sort stature
- brittle teeth
- loose joints
- hearing loss
- weak muscles
Symptoms can vary because Type I collagen is also a component of ligaments, teeth and whites of the eyes.
One major health concern of osteogenesis imperfecta is respiratory problems, primarily with lung capacity. The main causes for this breathing related issue are abnormalities with your chest cavity structure and a lung collagen deficit.
Persistently low blood oxygen levels and structural breathing difficulty can cause a whole host of symptoms and other health conditions, like:
- hypoxia
- cor pulmonale
- right heart failure
- ineffective coughing
- pulmonary hypertension
- frequent respiratory infections
- trouble clearing lung secretions
- airway diseases~ asthma, sleep apnea
Respiratory failure is the most common cause of death due to osteogenesis imperfecta.
There is no cure for this brittle bone disease, so treatment is geared toward strengthening your fragile bones and managing other symptoms. Osteogenesis imperfecta treatment may entail pain medication, physical therapy, bracing, casting and surgery.
Proper diet and exercise are paramount to strengthen fragile bones. In particular, weight bearing exercises and adequate intake of calcium, vitamin D and phosphorus.