Orthopaedic abnormalities in primary myopathies

Area of Science:

• Orthopaedics
• Neurology
• Genetics

Background:

• Orthopaedic abnormalities are frequently observed in individuals with myopathy.
• Systematic reviews detailing the types of myopathy, orthopaedic issues, and management are lacking.
• Understanding these connections is vital for comprehensive patient care.

Purpose of the Study:

• To systematically review and summarize current knowledge on orthopaedic abnormalities in myopathy patients.
• To identify the types of myopathies associated with these abnormalities, the specific orthopaedic problems, their frequency, and therapeutic interventions.
• To provide a consolidated resource for clinicians managing myopathy.

Main Methods:

• A comprehensive MEDLINE search was conducted using specific search terms.
• Relevant articles were reviewed to extract data on myopathy types, orthopaedic abnormalities, frequency, and treatments.
• Data synthesis focused on classification by anatomical location and association with specific myopathies.

Main Results:

• Orthopaedic abnormalities are classified by anatomical location: spine (e.g., scoliosis, rigid spine), thorax (e.g., pectus excavatum), limb girdles (e.g., pelvic deformities), and extremities (e.g., contractures).
• Commonly affected myopathies include arthrogryposis, muscular dystrophies, congenital myopathies, myofibrillar myopathies, and myotonic dystrophies.
• Most abnormalities are amenable to conservative or surgical orthopaedic management.

Conclusions:

• Orthopaedic abnormalities are a significant concern in myopathy patients, impacting overall management and outcomes.
• Close monitoring and timely intervention for these musculoskeletal issues are essential.
• Addressing orthopaedic complications can lead to improved quality of life for individuals with myopathy.