Duchenne Muscular Dystrophy: How Orthopedic Care Improves Mobility

Duchenne Muscular Dystrophy is a X‑linked recessive genetic disorder that causes progressive loss of muscle strength, typically diagnosed before age5. While corticosteroid therapy slows disease progression, the growing child's skeleton faces a cascade of complications -‑ contractures, foot deformities, and severe scoliosis. That’s where orthopedic care steps in, turning a bleak prognosis into a more functional life.

Why Orthopedic Care Matters in DMD

Orthopedic care in DMD isn’t just about fixing bones; it’s a proactive strategy that preserves joint range, stabilises the spine, and maintains the ability to sit, stand, and transfer. By coordinating with pulmonologists, cardiologists, physiotherapists, and genetic counselors, orthopedists help delay loss of independence and improve quality of life.

Key Musculoskeletal Challenges

Four major issues dominate the orthopedic agenda:

• Contracture is a permanent shortening of a muscle or tendon that limits joint movement, commonly seen in the ankle, knee, and elbow.
• Scoliosis is a lateral curvature of the spine that can exceed 40° by the early teen years, compromising breathing and seating.
• Foot Deformities such as pes cavus or equinus alter gait and can cause painful pressure points.
• Hip Subluxation is a partial dislocation that weakens the ability to sit upright.

Core Orthopedic Interventions

Interventions are chosen based on age, functional level, and progression speed.

Spinal Management

When scoliosis reaches 20‑30°, surgery becomes advisable. The two main approaches are:

Posterior spinal fusion remains the gold standard for severe curves, but growing implants give younger boys a chance to retain chest wall flexibility.

Managing Contractures

Early physiotherapy combined with surgical releases can prevent irreversible shortening. Common procedures include:

• Achilles tendon lengthening to improve ankle dorsiflexion.
• Quadriceps femoris release for knee extension.
• Elbow flexor release when the arm becomes permanently bent.

Timing is critical -‑ once a contracture is fixed, it’s far harder to regain function.

Foot Orthoses and Gait Analysis

Custom-made foot orthoses are molded shoe inserts that redistribute pressure and improve stance stability. A gait analysis lab uses pressure plates and motion capture to fine‑tune these devices.

Real‑world example: 9‑year‑old Liam started wearing a dynamic ankle‑foot orthosis after his gait lab showed a 15° equinus contracture. Within six months his walking distance increased by 30% and skin breakdown vanished.

Hip Surveillance

Routine radiographs catch subluxation early. If the hip head begins to slip, a proximal femoral varus osteotomy can re‑align the joint, preserving sitting balance.

Multidisciplinary Team (MDT) Framework

Orthopedic care thrives within an MDT. The core members include:

• Genetic counselor who explains the mutation and familial risk.
• Neuromuscular physiotherapist who designs daily stretching protocols.
• Pulmonologist monitoring lung function, crucial before any spine surgery.
• Cardiologist managing cardiomyopathy risk.
• Orthopedic surgeon -‑ the decision‑maker for surgical timing.

Regular MDT meetings (every 3‑6months) ensure that any change in motor function, respiratory capacity, or cardiac status triggers a prompt orthopedic review.

Timing, Outcomes, and Real‑World Data

Large registries from the United States and Europe report that boys who receive spinal fusion before a 40° Cobb angle have a 20% lower rate of respiratory decline over the next five years. Meanwhile, early contracture release combined with daily stretching delays loss of standing ability by an average of 2.5years.

These numbers underscore a simple rule: intervene early, but not too early. Surgery before the skeletal maturity of the targeted region reduces revision rates, yet waiting too long forfeits the chance to preserve function.

Emerging Approaches

Gene‑editing trials (CRISPR‑Cas9) aim to restore dystrophin, which could eventually lessen the orthopedic burden. In the meantime, minimally invasive techniques such as percutaneous vertebral body tethering are being trialled to offer curve control without the stiffness of fusion.

Robotic‑assisted gait training, using exoskeletons that adapt to the child’s residual strength, is another frontier. Early pilots show improved gait symmetry and reduced fatigue during daily activities.

Practical Checklist for Families

• Schedule quarterly orthopaedic assessments from age5.
• Start daily stretching routine targeting ankles, knees, and elbows.
• Request gait analysis before prescribing orthoses.
• Monitor spinal curvature with standing X‑rays every 6months after age8.
• Coordinate surgery dates with pulmonology clearance.
• Keep a log of functional milestones (standing, transferring, sitting tolerance).

Following this checklist helps families stay ahead of complications and make informed decisions about when and how to intervene.