Osteogenesis Imperfecta.
What is osteogenesis imperfecta?
Osteogenesis imperfecta (OI) — also known as brittle bone disease — is a heritable connective tissue disorder caused by mutations affecting the quantity or quality of type I collagen, the primary structural protein of bone. The result is bones that are fragile, prone to fracture from minimal trauma or even spontaneously, and often structurally deformed from the cumulative effects of fractures and abnormal bone remodelling.
OI sits within the broader spectrum of heritable connective tissue disorders alongside Ehlers-Danlos syndrome and Marfan syndrome, and like these conditions, its management requires specialist knowledge and a multidisciplinary team approach.
Classification and severity
OI is classified using the Sillence classification into four main types — now expanded to include additional subtypes — based on clinical severity and genetic features.
Understanding the type and functional severity is essential before any physiotherapy is undertaken — the exercise and loading parameters appropriate for Type I OI are quite different from those for Types III or IV.
What are the features of OI?
Beyond bone fragility and fractures, OI affects multiple systems. Joint hypermobility — particularly in Type I — is common and produces similar clinical challenges to hypermobility spectrum disorders in terms of joint instability and muscle fatigue. Muscle weakness is a consistent finding across OI types, independent of fracture history. Scoliosis and kyphosis are common in more severe types. Hearing loss — from progressive ossicular and cochlear involvement — affects a significant proportion of adults with OI. Cardiorespiratory complications develop in severe OI from thoracic cage deformity limiting lung expansion.
Chronic pain — from fractures, deformity and joint instability — is one of the most significant and often underappreciated features of OI and is an important rehabilitation goal alongside functional improvement.
Safety considerations in physiotherapy for OI
This is the most critical section of this page. Physiotherapy for OI requires specific knowledge of the condition and its implications for safe exercise loading. The primary risk is fracture from forces that would be entirely safe in a person without OI. This means:
High-impact activities — jumping, running on hard surfaces, contact sport, forceful manual therapy — are contraindicated or require careful individual assessment based on bone density and fracture history. Techniques that are routine in standard physiotherapy — joint manipulation, aggressive passive stretching — may be inappropriate. Exercise progression must be more gradual and more carefully monitored than in standard rehabilitation. Hydrotherapy, where the buoyancy of water reduces skeletal loading, is particularly valuable as it allows meaningful muscle strengthening with reduced fracture risk.
The specific exercise parameters for each individual should be determined in close consultation with their specialist medical team — paediatric orthopaedics for children, adult metabolic bone specialists and rheumatologists for adults — who will have information about current bone density, bisphosphonate treatment status, and fracture history that directly informs what is safe.
How can physiotherapy help?
Despite the necessary cautions, physiotherapy is genuinely valuable for OI and has a strong evidence base for improving function and quality of life. Physiotherapy can improve muscle strength and joint function, reducing the risk of fractures.
Muscle strengthening is the primary goal — strong muscles reduce the forces transmitted to fragile bones during daily activities by absorbing more of the load. Progressive, carefully dosed strengthening within individually determined safe parameters produces meaningful improvements in function and fracture risk reduction. Aquatic exercise is the first-choice modality for more severe OI given its bone-loading reduction.
Gait training and mobility rehabilitation — particularly after fracture or following surgical rodding procedures — restores the functional movement patterns that allow independent activity. Deconditioning from prolonged immobilisation after fractures is itself a significant problem and must be addressed carefully and progressively.
Proprioception and balance training reduces fall risk, which is one of the primary fracture risks in ambulatory patients with OI. For children with OI, this is particularly important in school and recreational settings.
Postural management — addressing the scoliosis, kyphosis and compensatory postures that develop from cumulative fractures and deformity — improves comfort and respiratory function.
Clinical Pilates can be appropriate for higher-functioning OI patients when specifically adapted — avoiding high-load spring resistance, impact and end-range loading while capitalising on the low-impact, body-awareness emphasis of the method. This requires careful individual assessment and modification.
Pain management — addressing both the nociceptive pain from fractures and skeletal deformity, and the central sensitisation that develops with chronic pain — is an important component of comprehensive OI physiotherapy.
The Osteogenesis Imperfecta Foundation provides comprehensive patient and clinician resources for OI management.
Our physiotherapist Yulia Khasyanova and Maurcio Bara have specialist experience in heritable connective tissue disorders and complex bone conditions. Telehealth is available for patients who cannot access specialist OI physiotherapy locally. All physiotherapy for OI at Articulate is conducted in close coordination with the patient's specialist medical team.
To book or find out more, call us on 07 3706 3407 or book online below. We see patients from across Brisbane's southside including Tarragindi, Coorparoo, Holland Park, Greenslopes and Mt Gravatt.
Osteogenesis imperfecta (OI) — also known as brittle bone disease — is a heritable connective tissue disorder caused by mutations affecting the quantity or quality of type I collagen, the primary structural protein of bone. The result is bones that are fragile, prone to fracture from minimal trauma or even spontaneously, and often structurally deformed from the cumulative effects of fractures and abnormal bone remodelling.
OI sits within the broader spectrum of heritable connective tissue disorders alongside Ehlers-Danlos syndrome and Marfan syndrome, and like these conditions, its management requires specialist knowledge and a multidisciplinary team approach.
Classification and severity
OI is classified using the Sillence classification into four main types — now expanded to include additional subtypes — based on clinical severity and genetic features.
- Type I — the mildest and most common form — produces bone fragility with fractures from minor trauma, blue sclerae (blue tint to the whites of the eyes), possible hearing loss, and normal or near-normal stature. Many people with Type I OI lead relatively active lives with appropriate management.
- Type II — the most severe form — is typically perinatally lethal due to extreme bone fragility and pulmonary insufficiency from thoracic cage deformity. It is not a presentation encountered in outpatient physiotherapy.
- Type III — severe, progressively deforming OI producing significant skeletal deformity, very short stature, dentinogenesis imperfecta and substantial disability. Wheelchair use is common.
- Type IV — moderate severity between Types I and III, producing variable fracture frequency, possible dentinogenesis imperfecta, and mild to moderate skeletal deformity.
Understanding the type and functional severity is essential before any physiotherapy is undertaken — the exercise and loading parameters appropriate for Type I OI are quite different from those for Types III or IV.
What are the features of OI?
Beyond bone fragility and fractures, OI affects multiple systems. Joint hypermobility — particularly in Type I — is common and produces similar clinical challenges to hypermobility spectrum disorders in terms of joint instability and muscle fatigue. Muscle weakness is a consistent finding across OI types, independent of fracture history. Scoliosis and kyphosis are common in more severe types. Hearing loss — from progressive ossicular and cochlear involvement — affects a significant proportion of adults with OI. Cardiorespiratory complications develop in severe OI from thoracic cage deformity limiting lung expansion.
Chronic pain — from fractures, deformity and joint instability — is one of the most significant and often underappreciated features of OI and is an important rehabilitation goal alongside functional improvement.
Safety considerations in physiotherapy for OI
This is the most critical section of this page. Physiotherapy for OI requires specific knowledge of the condition and its implications for safe exercise loading. The primary risk is fracture from forces that would be entirely safe in a person without OI. This means:
High-impact activities — jumping, running on hard surfaces, contact sport, forceful manual therapy — are contraindicated or require careful individual assessment based on bone density and fracture history. Techniques that are routine in standard physiotherapy — joint manipulation, aggressive passive stretching — may be inappropriate. Exercise progression must be more gradual and more carefully monitored than in standard rehabilitation. Hydrotherapy, where the buoyancy of water reduces skeletal loading, is particularly valuable as it allows meaningful muscle strengthening with reduced fracture risk.
The specific exercise parameters for each individual should be determined in close consultation with their specialist medical team — paediatric orthopaedics for children, adult metabolic bone specialists and rheumatologists for adults — who will have information about current bone density, bisphosphonate treatment status, and fracture history that directly informs what is safe.
How can physiotherapy help?
Despite the necessary cautions, physiotherapy is genuinely valuable for OI and has a strong evidence base for improving function and quality of life. Physiotherapy can improve muscle strength and joint function, reducing the risk of fractures.
Muscle strengthening is the primary goal — strong muscles reduce the forces transmitted to fragile bones during daily activities by absorbing more of the load. Progressive, carefully dosed strengthening within individually determined safe parameters produces meaningful improvements in function and fracture risk reduction. Aquatic exercise is the first-choice modality for more severe OI given its bone-loading reduction.
Gait training and mobility rehabilitation — particularly after fracture or following surgical rodding procedures — restores the functional movement patterns that allow independent activity. Deconditioning from prolonged immobilisation after fractures is itself a significant problem and must be addressed carefully and progressively.
Proprioception and balance training reduces fall risk, which is one of the primary fracture risks in ambulatory patients with OI. For children with OI, this is particularly important in school and recreational settings.
Postural management — addressing the scoliosis, kyphosis and compensatory postures that develop from cumulative fractures and deformity — improves comfort and respiratory function.
Clinical Pilates can be appropriate for higher-functioning OI patients when specifically adapted — avoiding high-load spring resistance, impact and end-range loading while capitalising on the low-impact, body-awareness emphasis of the method. This requires careful individual assessment and modification.
Pain management — addressing both the nociceptive pain from fractures and skeletal deformity, and the central sensitisation that develops with chronic pain — is an important component of comprehensive OI physiotherapy.
The Osteogenesis Imperfecta Foundation provides comprehensive patient and clinician resources for OI management.
Our physiotherapist Yulia Khasyanova and Maurcio Bara have specialist experience in heritable connective tissue disorders and complex bone conditions. Telehealth is available for patients who cannot access specialist OI physiotherapy locally. All physiotherapy for OI at Articulate is conducted in close coordination with the patient's specialist medical team.
To book or find out more, call us on 07 3706 3407 or book online below. We see patients from across Brisbane's southside including Tarragindi, Coorparoo, Holland Park, Greenslopes and Mt Gravatt.
