Osteogenesis Imperfecta

Osteogenesis Imperfecta

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Osteogenesis Imperfecta (OI), aka brittle bone disease, is a genetic condition in which bones fracture/break easily, often with no obvious cause or minimal injury. There are 8 different types of Ol: Types I and II are the most commonly diagnosed, while other types are typically a combination of Type I and II presentations and are currently being studied. Type I is the most common and most mild; Type II is the most severe form and usually results in death. 

OI results from a defect in the genes responsible for making collagen, the main structural protein matrix responsible for building bones, skin, tendons, and ligaments; collagen is still being produced, just not in sufficient amounts. Signs and symptoms of Ol depend on the type, but for those with less severe forms: 

  • Short stature that typically persists as the child ages 
  • Bones that fracture easily 
  • Bone deformities 
  • Muscle weakness 
  • Joint laxity 
  • Gross motor delays 
  • Discoloured sclera (whites of the eyes) 
  • Changes to the strength and colour of teeth
A physiotherapist working with a child on their Osteogenesis Imperfecta. The child is standing up in front of a ball while the physiotherapist sits behind them steadying them by holding their legs. Both are smiling.

How Physiotherapy Can Help

Physiotherapists can help address Ol in the following ways: 

  • Exercise, including weight-bearing activities to optimize strength and function; braces may be needed 
  • Skill progression and motor development (reaching, sitting, etc) if they are delayed 
  • Using preventive positioning, protective handling, and active movement with gradual progression to help facilitate motor skill development safely 
  • Practicing low-impact activities such as swimming (precautions must be defined) 
  • Care with safe handling and encouraging changes in body positions/postures throughout the day to help strengthen muscles/prevent deformities 
  • Prescribing appropriate adaptive equipment (e.g. cane, walker, manual or power wheelchair) 
  • Incorporating school-based services to provide support for adapting to the environment as needed 
  • Incorporating home-based services to provide support for adapting the home environment for optimal functioning 
  • Practicing hydrotherapy to help develop motor skills and confidence with movement 
  • Encouraging healthy living to promote optimal general health
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