Orthopedic management in Duchenne muscular dystrophy

Area of Science:

• Orthopedics
• Neuromuscular Disorders
• Genetics

Background:

• Duchenne muscular dystrophy (DMD) causes progressive muscle degeneration, leading to significant mobility loss and deformities by adolescence.
• Key pathological features include dystrophin absence, muscle necrosis, and fibrosis, impacting skeletal muscle function.
• Patients often develop spinal deformities, joint contractures, and respiratory/cardiac issues.

Purpose of the Study:

• To provide a comprehensive overview of current orthopedic management strategies for Duchenne muscular dystrophy.
• To highlight the shift towards conservative management and the rationale behind it.
• To discuss common orthopedic complications and their treatment approaches.

Main Methods:

• Review of current literature on orthopedic management in DMD.
• Analysis of treatment outcomes for surgical and non-surgical interventions.
• Discussion of preventative strategies and multidisciplinary care approaches.

Main Results:

• Long-term glucocorticoid therapy improves mobility, delays ventilation needs, and reduces scoliosis surgery rates.
• Common deformities include scoliosis, hip flexor retractions, and foot deformities.
• There is a growing consensus against routine lower extremity surgery due to limited success and high recurrence rates.
• Fracture management includes bisphosphonate therapy, with vertebral and lower limb fractures being common.

Conclusions:

• Orthopedic care in DMD prioritizes prevention, motor function preservation, and bone health through an interdisciplinary approach.
• Conservative management, including orthotics and postural support, is favored.
• Surgical interventions are reserved for specific cases, with careful preoperative assessment crucial.