Muscle impairments in osteogenesis imperfecta: a narrative review

Area of Science:

• Orthopedics and Musculoskeletal Health
• Genetics and Rare Diseases
• Rehabilitation and Physical Therapy

Background:

• Osteogenesis Imperfecta (OI) is a rare genetic disorder characterized by bone fragility and skeletal deformities.
• Extraskeletal manifestations of OI include cardiac, dental, and auditory impairments.
• OI significantly affects skeletal muscle function, leading to reduced strength, power, balance, and increased fatigability.

Purpose of the Study:

• To review the existing evidence on the impact of OI on skeletal muscle function.
• To explore biological, environmental, and epidemiological factors contributing to muscle deficits in OI.
• To summarize current therapeutic strategies and their effectiveness for muscle health in OI.

Main Methods:

• Systematic review of available literature on Osteogenesis Imperfecta and skeletal muscle.
• Analysis of studies examining muscle mass, quality, strength, power, and fatigability in OI patients.
• Evaluation of research on factors influencing muscle function and potential interventions.

Main Results:

• Individuals with OI exhibit pronounced deficits in skeletal muscle mass, quality, strength, and endurance.
• Muscle impairments in OI are multifactorial, potentially involving sensory, ventilatory, and metabolic system deficits.
• Epidemiological data on muscle health in OI is scarce, though severe types correlate with greater impairment.
• Current evidence for physical activity and pharmacological interventions shows mixed results.

Conclusions:

• Skeletal muscle dysfunction is a critical, under-researched aspect of Osteogenesis Imperfecta with significant functional consequences.
• Tailoring interventions to specific OI types and individual needs is crucial.
• Further research is warranted to develop effective strategies for improving muscle health and function in OI.