Recognizing Duchenne: Early Signs in Patients with DMD

Recognizing Duchenne: Early Signs and the Orthopedic Surgeon's Imperative in Duchenne Muscular Dystrophy

Introduction & Epidemiology

Duchenne Muscular Dystrophy (DMD) is the most common and severe form of muscular dystrophy, an X-linked recessive disorder caused by mutations in the DMD gene encoding dystrophin. Dystrophin, a crucial protein in the dystrophin-glycoprotein complex, provides structural integrity to muscle fibers. Its absence or dysfunction leads to progressive muscle degeneration and weakness, impacting skeletal, cardiac, and smooth muscle.

The incidence of DMD is approximately 1 in 3,500 to 5,000 live male births. While females can be carriers, symptomatic Duchenne in females is exceedingly rare. Clinical manifestation typically begins in early childhood, with the early signs often presenting as delayed motor milestones or subtle gait abnormalities. These initial presentations, though seemingly benign, are critical indicators of an underlying progressive neuromuscular disease. Orthopedic surgeons play an indispensable role in the multidisciplinary management of DMD, addressing its myriad musculoskeletal complications throughout the disease trajectory. Our involvement is not merely reactive; rather, it requires proactive recognition of disease progression and anticipation of impending orthopedic challenges.

Key early signs that frequently prompt initial medical evaluation, and which an orthopedic surgeon should be cognizant of, include:
* Delayed Motor Milestones: Children with DMD may sit independently later than peers (e.g., >8 months), walk later (e.g., >18 months), or struggle with tasks like climbing stairs.
* Waddling Gait: A characteristic broad-based, lordotic gait due to proximal muscle weakness, particularly of the gluteus medius and minimus.
* Gower's Sign: A pathognomonic maneuver where the child uses their hands to "walk up" their legs to stand from a seated or prone position, compensating for weak quadriceps and hip extensors.
* Calf Pseudohypertrophy: Enlargement of the calf muscles, initially appearing robust, but pathologically due to fatty and fibrous tissue infiltration rather than true hypertrophy.
* Frequent Falls: Resulting from impaired balance, proximal weakness, and rapidly fatiguing muscles.
* Difficulty Running, Jumping, or Climbing Stairs: Early loss of higher-level gross motor skills.
* Speech Delay: Although not musculoskeletal, it can be an associated finding.

As the disease progresses, often between ages 5 and 10, these early signs evolve into more pronounced musculoskeletal deformities and functional limitations. Contractures develop due to muscle imbalance and fibrous replacement, predominantly affecting the ankles (equinus), hips (flexion-abduction), and knees (flexion). Progressive scoliosis becomes a major concern, particularly after loss of ambulation. The orthopedic surgeon's understanding of these evolving signs and their underlying pathophysiology is crucial for timely intervention and optimizing quality of life.

Surgical Anatomy & Biomechanics

The progressive muscle degeneration in DMD leads to profound alterations in surgical anatomy and biomechanics, which significantly impact operative planning and execution. Understanding these changes is paramount for any orthopedic intervention.

Spine

In DMD, the spine is subjected to unique biomechanical stresses. Axial muscle weakness, particularly of the paraspinal muscles, along with progressive pelvic obliquity, leads to a high incidence of scoliosis. This scoliosis is typically a long C-shaped thoracolumbar curve, frequently commencing or rapidly progressing after the loss of ambulation (around ages 10-12). The underlying anatomy is complicated by:
* Osteopenia: Chronic steroid use and reduced weight-bearing lead to significant osteopenia, which impacts pedicle screw fixation strength and increases the risk of vertebral body fracture during instrumentation. The bony architecture, while externally similar, internally presents with reduced bone mineral density.
* Muscle Atrophy and Fibrosis: The paraspinal musculature is profoundly atrophic and replaced by fatty and fibrous tissue. This alters surgical planes, making subperiosteal dissection less distinct and potentially increasing intraoperative blood loss due to the highly vascularized fibrotic tissue.
* Pelvic Obliquity: Often driven by hip contractures or asymmetric weakness, pelvic obliquity accentuates spinal deformity and contributes to sitting imbalance. Surgical correction often requires addressing the pelvis to achieve a balanced fusion.

Lower Limbs

Contractures are a hallmark of DMD progression and directly affect ambulation, sitting, and hygiene. The primary muscle groups affected and relevant surgical anatomy include:
* Gastrocnemius-Soleus Complex: Equinus contractures are almost universal. The Achilles tendon, while palpable, is often shortened and fibrotic. Surgical lengthening requires meticulous technique to avoid overcorrection or damage to neurovascular structures.
* Hamstrings: Knee flexion contractures are common, requiring lengthening of the medial (semitendinosus, semimembranosus) and lateral (biceps femoris) hamstrings. The relative positions of the sciatic nerve and popliteal vessels must be carefully considered.
* Hip Flexors: Iliopsoas and rectus femoris contractures contribute to hip flexion deformity and lumbar lordosis, impeding standing and transfers. Surgical release may involve tenotomy or partial lengthening. The femoral neurovascular bundle is in close proximity anteriorly.
* Iliotibial Band (ITB): Contracture of the ITB can lead to hip abduction contracture and further contribute to pelvic obliquity and knee valgus. Release often involves a fasciotomy along the lateral aspect of the thigh.

Biomechanical implications of muscle weakness and contractures:
* Altered Gait: The waddling gait, toe-walking (due to equinus), and compensatory lordosis are direct biomechanical responses to muscle weakness and contractures.
* Joint Instability: Weakness around major joints can lead to instability, though true dislocations are less common than contracture-induced deformities.
* Fracture Risk: Generalized osteopenia combined with falls due to muscle weakness significantly increases the risk of low-energy fractures, particularly of the long bones (femur, tibia). The bone's reduced structural integrity means traditional fixation methods may have diminished pull-out strength.

The orthopedic surgeon must anticipate these anatomical and biomechanical challenges, including increased bleeding risk, poor bone quality, and altered tissue characteristics, to plan and execute safe and effective surgical interventions.

Indications & Contraindications

Determining the appropriate timing and necessity for surgical intervention in DMD patients requires careful consideration of disease progression, patient function, and overall health status, particularly cardiac and pulmonary function. Decisions are always made within a multidisciplinary team framework.

Operative Indications

Non-Operative Indications

Non-operative management is the cornerstone of DMD care and precedes, accompanies, or prevents the need for surgical intervention in many instances.

• Physical Therapy (PT) and Occupational Therapy (OT): Regular stretching, range-of-motion exercises, and strengthening (non-fatiguing) to maintain flexibility, muscle strength, and functional independence. Crucial for delaying contractures and maintaining respiratory function.
• Bracing/Orthotics:
  • Ankle-Foot Orthoses (AFOs): To manage equinus contractures, maintain plantigrade foot, and assist ambulation.
  • Knee-Ankle-Foot Orthoses (KAFOs): For knee stability and ambulation support.
  • Spinal Bracing (TLSO): Rarely effective for preventing progression of scoliosis in DMD, but may be used for comfort or temporary support.
• Pharmacological Management:
  • Corticosteroids (e.g., Prednisone, Deflazacort): Standard of care, proven to slow disease progression, preserve muscle strength, and delay loss of ambulation. Must be managed carefully due to side effects (osteoporosis, weight gain, Cushingoid features).
  • Bisphosphonates: For osteoporosis management, particularly in steroid-treated patients, to reduce fracture risk.
  • Cardiac Medications: ACE inhibitors, beta-blockers, etc., to manage cardiomyopathy.
• Respiratory Support: Non-invasive ventilation (NIV) as needed, cough assist devices, pulmonary hygiene.
• Nutritional Support: Diet management to prevent obesity (common with steroid use) or malnutrition.
• Early, Mild Contractures: Managed aggressively with stretching, splinting, and PT.

Contraindications

Contraindications to orthopedic surgery in DMD are largely related to the systemic nature of the disease and the overall fragility of these patients.

• Severe Cardiorespiratory Compromise: This is the most significant absolute contraindication. A preoperative ejection fraction (EF) < 30-35% or severely impaired pulmonary function (e.g., FVC < 20% predicted, or significant CO2 retention) often precludes major surgery unless life-sustaining benefits clearly outweigh risks, or a specialized center with advanced cardiac/pulmonary support is available.
• Active Infection: Especially systemic sepsis or local infection at the surgical site.
• Uncontrolled Coagulopathy: Risk of excessive bleeding.
• Extremely Fragile Bone/Severe Osteoporosis: Where implant purchase is deemed inadequate or fracture risk during instrumentation is prohibitively high. This is a relative contraindication, as advanced techniques (e.g., cement augmentation) may be considered.
• Poor Nutritional Status/Cachexia: Increases surgical risk, delays wound healing.
• Lack of Family/Patient Understanding or Compliance: Complex post-operative care requires full engagement.
• Rapidly Deteriorating Clinical Course: In some cases, the patient's general health may be declining too rapidly for a planned elective surgery to provide meaningful benefit.

Pre-Operative Planning & Patient Positioning

Meticulous pre-operative planning is paramount for orthopedic surgery in DMD patients due to their systemic vulnerabilities. It necessitates a highly coordinated, multidisciplinary approach.

Multidisciplinary Assessment

1. Cardiology: Essential due to the high incidence of cardiomyopathy. Preoperative evaluation includes EKG, echocardiogram (EF assessment), and sometimes cardiac MRI. Optimization of cardiac function with medications (ACE inhibitors, beta-blockers) is critical.
2. Pulmonology: Crucial for assessing respiratory reserve. Evaluation includes pulmonary function tests (PFTs), blood gas analysis (baseline CO2 retention), and potentially a sleep study. Patients may require pre-emptive or increased non-invasive ventilatory support post-operatively.
3. Anesthesiology: A highly specialized assessment is required.
   • Malignant Hyperthermia (MH) Risk: While DMD is not a direct MH susceptibility, patients with DMD (and other myopathies) can experience a rhabdomyolysis-like syndrome in response to volatile anesthetics (e.g., halothane, isoflurane) and depolarizing muscle relaxants (e.g., succinylcholine). Therefore, succinylcholine is absolutely contraindicated, and volatile agents are used with extreme caution or avoided in favor of total intravenous anesthesia (TIVA) with propofol.
   • Cardiopulmonary Reserve: Anesthesia must be tailored to protect compromised cardiac and pulmonary function.
   • Neuromuscular Monitoring: Altered response to non-depolarizing muscle relaxants.
4. Neurology: For baseline neurological status and genetic confirmation.
5. Endocrinology/Bone Health: Due to chronic steroid use, osteoporosis is common. DEXA scans, Vitamin D, and calcium levels should be assessed. Bisphosphonates may be initiated preoperatively.
6. Physical Therapy/Occupational Therapy: Baseline functional assessment and post-operative rehabilitation planning.
7. Nutrition: Assessment of nutritional status to optimize wound healing and recovery.

Pre-Operative Surgical Planning

• Imaging:
  • Spine: Full-length standing/sitting AP/lateral radiographs, bending views for flexibility, CT scan with 3D reconstruction for screw trajectory planning (especially in osteopenic bone), MRI to assess spinal cord compression and delineate vertebral anatomy.
  • Lower Limbs: Standard radiographs, specialized views to assess contractures (e.g., hip abduction/adduction views).
• Implant Selection: For spinal fusion, a robust pedicle screw construct is typically favored due to its three-dimensional correction capabilities and superior pull-out strength in osteopenic bone compared to hooks/wires. Consideration of hybrid constructs. For fractures, intramedullary nails or plates may require augmentation for bone fragility.
• Blood Management: Type and cross-match blood. Consider cell-saver.
• Antibiotic Prophylaxis: Standard broad-spectrum antibiotics.

Patient Positioning

Careful and thoughtful patient positioning is critical to prevent complications, given the patient's muscle weakness, contractures, osteopenia, and skin fragility.
* Spinal Surgery (Prone Position):
* Pressure Point Padding: Extensive padding of all bony prominences (iliac crests, knees, ankles, face) to prevent pressure ulcers, especially given thin skin and reduced subcutaneous fat.
* Abdominal Support: Use of a chest roll or specialized frame (e.g., Jackson table) to allow the abdomen to hang free, minimizing intra-abdominal pressure and consequently epidural venous bleeding, which can improve surgical visibility.
* Head Position: Neutral cervical spine, careful airway management to avoid tracheal tube kinking or accidental extubation.
* Peripheral Nerve Protection: Attention to brachial plexus and peroneal nerve to prevent compression neuropathies.
* Respiratory Considerations: Ensuring adequate chest wall excursion and ventilation, especially in patients with reduced lung compliance.
* Lower Limb Surgery (Supine Position):
* Similar emphasis on pressure point padding.
* Careful limb positioning to account for pre-existing contractures and avoid nerve stretch or vascular compromise.
* Adequate access for image intensifier.

Throughout positioning, constant communication with anesthesia is vital to monitor hemodynamics and respiratory status.

Detailed Surgical Approach / Technique

Orthopedic surgical interventions in DMD predominantly address scoliosis and contractures. While techniques are adapted from standard orthopedic procedures, specific considerations for DMD patients are crucial.

Posterior Spinal Fusion for Scoliosis

The goal is to achieve a solid fusion, correct deformity, balance the spine over the pelvis, and improve sitting posture and pulmonary function.

1. Incision and Exposure: A midline posterior incision from the upper thoracic to the sacral or iliac region, depending on the extent of the curve and the need for pelvic fixation. Subperiosteal dissection is performed bilaterally along the spinous processes, laminae, and transverse processes. Given the dystrophic musculature, dissection planes may be less distinct, and fibrous tissue can be more vascular, requiring meticulous hemostasis. The use of electrocautery should be judicious to avoid thermal injury to neural elements in cases of severely compromised muscle tissue.
2. Instrumentation: Pedicle screws are the preferred method of fixation due to their three-column purchase and superior biomechanical strength, critical in the osteopenic bone of DMD patients. Screw trajectories must be carefully planned using preoperative CT scans. In some cases, particularly in the lower lumbar and sacral regions, iliac screws may be necessary to achieve stable pelvic fixation and correct pelvic obliquity. For severe osteopenia, cement augmentation of pedicle screws (e.g., polymethyl methacrylate) can be considered, though this adds complexity and risk.
3. Deformity Correction: After screw placement, rods are contoured and meticulously introduced. Correction maneuvers typically involve segmental derotation, translation, and compression/distraction to achieve spinal realignment. Gradual and controlled correction is paramount to minimize stress on the spinal cord and reduce the risk of neurological compromise. Intraoperative neuromonitoring (SSEP and MEP) is mandatory throughout this phase to detect any changes in spinal cord function.
4. Fusion: Thorough decortication of the posterior elements (laminae, transverse processes) is performed to create a bleeding bone bed. Autograft (local bone harvested from the decortication) and allograft (demineralized bone matrix, cancellous chips) are then applied generously to promote arthrodesis.

5. Wound Closure: Meticulous layered closure is performed, paying attention to reapproximating fascial layers to prevent seroma formation. Drains may be used to manage potential hematoma. Skin closure is performed carefully, given potential skin fragility.

   

Lower Limb Contracture Releases

These procedures aim to maintain or restore functional range of motion and often complement the use of orthoses.

1. Percutaneous Achilles Tenotomy/Lengthening: For equinus contractures. Multiple small stab incisions are made, and the Achilles tendon is lengthened percutaneously via sequential tenotomies (e.g., three-portal technique for Z-lengthening effect). This minimally invasive approach reduces wound complications but requires precise anatomical knowledge to avoid neurovascular structures. Overcorrection leading to calcaneus deformity must be avoided.
2. Open Z-Lengthening of Achilles Tendon: For more severe or resistant equinus contractures. A posteromedial incision allows direct visualization and a formal Z-plasty of the Achilles tendon, carefully mobilizing the sural nerve.
3. Hamstring Lengthening:
   • Medial Hamstrings (Semitendinosus, Semimembranosus): Incisions are typically made posteromedially at the knee. The tendons are identified and lengthened, often by Z-plasty or fractional lengthening, while protecting the popliteal neurovascular bundle and saphenous nerve.
   • Lateral Hamstrings (Biceps Femoris): Incision posterolaterally. The biceps femoris tendon is identified and lengthened. Care must be taken to protect the common peroneal nerve.
4. Iliopsoas and Rectus Femoris Release: For hip flexion contractures. The iliopsoas can be released via an anterior approach (e.g., through a bikini incision or a more direct approach). The rectus femoris can be released at its origin (proximal) or insertion (distal) depending on the specific deformity.

5. Iliotibial Band (ITB) Release (Ober-Yount Procedure): For hip abduction contractures. A lateral incision over the greater trochanter and distal ITB allows for a fasciotomy or Z-lengthening of the ITB, releasing the tensor fascia lata.

   

General Principles for all DMD Surgeries:

• Minimally Invasive Whenever Possible: To reduce surgical trauma, blood loss, and recovery time.
• Meticulous Hemostasis: Due to potential increased vascularity in fibrotic muscle and overall fragility.
• Protection of Neurovascular Structures: Crucial in all releases due to potential anatomical distortion by contractures and the patient's general vulnerability.
• Gradual Correction: Avoid aggressive force, especially in scoliosis, to prevent neurological injury or implant pullout.
• Prevention of Overcorrection: Especially for contracture releases, as overcorrection can lead to new functional deficits.

Complications & Management

Orthopedic surgery in DMD patients carries a higher risk profile due to the multisystem involvement and progressive nature of the disease. Vigilant monitoring and a proactive approach to potential complications are essential.

Post-Operative Rehabilitation Protocols

Post-operative rehabilitation is critical for optimizing surgical outcomes, preventing secondary complications, and maintaining functional independence in DMD patients. Protocols must be individualized, focusing on patient safety, respiratory and cardiac stability, and pain management, given their inherent vulnerabilities.

Immediate Post-Operative Period (Day 0-7)

• Pain Management: Aggressive, multimodal analgesia is crucial. This often involves epidural catheters (for spinal surgery), patient-controlled analgesia (PCA) with opioids, and judicious use of NSAIDs (if not contraindicated). The goal is to facilitate early mobilization and pulmonary hygiene.
• Respiratory Support: Many DMD patients, especially those who were already using NIV preoperatively, will require prolonged respiratory support. This may involve non-invasive ventilation (BiPAP/CPAP) or, in some cases, temporary invasive mechanical ventilation in the ICU. Regular chest physiotherapy, incentive spirometry, and cough assist devices are essential to prevent atelectasis and pneumonia.
• Cardiovascular Monitoring: Continuous cardiac monitoring in an ICU or step-down unit is standard, given the risk of cardiac decompensation.
• Early Mobilization (Bed Mobility & Transfers): As soon as medically stable and pain is controlled, gentle bed mobility (logrolling for spinal fusion) and assisted transfers to a chair or wheelchair should begin. This prevents pressure sores, aids pulmonary function, and reduces the risk of DVT/PE.
• Wound Care: Daily wound checks, dressing changes, and monitoring for signs of infection or skin breakdown.
• Nutritional Support: Oral intake is encouraged as soon as tolerated. Nutritional supplements may be necessary.

Intermediate Rehabilitation (Week 1-6)

• Physical Therapy (PT):
  • Spinal Fusion: Focus on maintaining a stable spine. Gradual upright positioning (sitting, standing if applicable). A brace (e.g., TLSO) may be used for comfort and to limit gross spinal motion, although its role in long-term fusion success is debated. Activities to strengthen core muscles (within fusion limits) and maintain upper extremity function. Avoid heavy lifting, twisting, or bending for several months.
  • Contracture Releases: Gentle, progressive range-of-motion (ROM) exercises. Manual stretching by therapists and caregivers is crucial to maintain surgical correction. Night splints or dynamic orthoses (e.g., AFOs for ankle equinus) are often prescribed to prevent recurrence. Weight-bearing and ambulation training begin as tolerated, focusing on proper gait mechanics and safety.
• Occupational Therapy (OT): Assessment and training for Activities of Daily Living (ADLs) in the new functional status (e.g., modified techniques for dressing, hygiene, feeding). Prescription of adaptive equipment as needed (e.g., shower chairs, reachers).
• Orthotics: Re-evaluation and fitting of appropriate orthoses (AFOs, KAFOs) to support corrected deformities, maintain alignment, and assist with function.
• Pain Management: Transition from hospital-based analgesia to oral pain medications.
• Education: Extensive education for patient and caregivers on home exercise programs, transfer techniques, skin care, and recognizing signs of complications.

Long-Term Management (Beyond 6 Weeks)

• Continued PT/OT: Regular, ongoing therapy to maintain strength, flexibility, and functional skills. Focus on preventing secondary complications and adapting to disease progression.
• Orthopedic Follow-up: Regular clinical and radiographic follow-up to monitor fusion integrity, implant status, and recurrence of deformities. Bone health monitoring (DEXA scans, Vitamin D levels) is ongoing.
• Multidisciplinary Follow-up: Continued close collaboration with cardiology, pulmonology, neurology, and endocrinology. Regular cardiac surveillance (echocardiograms) and pulmonary function testing are essential.
• Adaptive Equipment: Reassessment and provision of wheelchairs, power mobility devices, and other adaptive technologies as functional needs evolve.
• Psychosocial Support: Ongoing support for the patient and family to cope with the progressive nature of DMD.

The rehabilitation process for DMD patients is a lifelong journey, with surgical interventions acting as key points to improve or preserve function, but always within the context of progressive disease. The goal is to maximize independence and quality of life at every stage.

Summary of Key Literature / Guidelines

The management of Duchenne Muscular Dystrophy, particularly its orthopedic complications, has been significantly informed by robust scientific literature and consensus guidelines developed by international expert panels. Adherence to these guidelines is crucial for delivering evidence-based, high-quality care.

Key Consensus Guidelines:

1. "Care Considerations for Duchenne Muscular Dystrophy" (Bushby et al., Lancet Neurology 2010; 2018 update): These comprehensive international guidelines, supported by the Centers for Disease Control and Prevention (CDC) and major patient advocacy groups, provide a multidisciplinary framework for the diagnosis and management of DMD. They include detailed recommendations for orthopedic management, covering contracture prevention, scoliosis surgery, and fracture care.
   • Key Orthopedic Recommendations: Emphasize regular monitoring for contractures and scoliosis. Advocate for early and consistent stretching, splinting, and physical therapy. Recommend surgical intervention for scoliosis at specific Cobb angles (e.g., >20-30 degrees in non-ambulatory patients, >40 degrees in ambulatory patients, especially with respiratory compromise), aiming to maintain sitting balance and preserve pulmonary function. Timely contracture release is advised to preserve ambulation or facilitate transfers and hygiene.
2. "Practice Parameter: The Treatment of Duchenne Dystrophy: An Evidence-Based Review" (Birnkrant et al., Neurology 2018): This American Academy of Neurology (AAN) guideline reinforces many of the international care considerations, particularly regarding corticosteroid use, cardiac monitoring, and the importance of multidisciplinary care. It also highlights the evidence for the efficacy of surgical correction for scoliosis.

Landmark Studies and Important Concepts:

• Role of Corticosteroids: Numerous randomized controlled trials and observational studies have demonstrated that daily corticosteroid therapy (prednisone or deflazacort) significantly slows disease progression, prolongs ambulation, maintains muscle strength, and delays the onset of cardiomyopathy. This has profound implications for orthopedic timing, as patients may remain ambulatory longer, shifting the timeline for contracture and scoliosis progression.
• Timing of Scoliosis Surgery: Studies have consistently shown better outcomes for spinal fusion when performed proactively in non-ambulatory patients before the curve becomes excessively rigid or pulmonary function severely deteriorates. Earlier fusion prevents respiratory compromise, improves sitting comfort, and reduces the complexity of surgery. Waiting until FVC falls below 20% of predicted capacity significantly increases perioperative risks.
• Bone Health in DMD: The high incidence of osteoporosis and fractures in DMD patients, exacerbated by corticosteroid use, has led to a focus on bone health management. Studies support the use of bisphosphonates to reduce fracture risk and improve bone mineral density. This is directly relevant to surgical planning, particularly for spinal instrumentation.
• Multidisciplinary Care Models: The literature consistently highlights that outcomes for DMD patients are significantly better when managed by a dedicated multidisciplinary team. Orthopedic surgeons are an integral part of this team, collaborating closely with neurologists, pulmonologists, cardiologists, rehabilitation specialists, and genetic counselors. This integrated approach ensures comprehensive care that addresses all aspects of the disease.
• Impact of New Therapies: The advent of genetic therapies, such as exon skipping agents (e.g., Eteplirsen, Golodirsen) and gene replacement therapies, represents a paradigm shift. While not curative, these therapies aim to restore some dystrophin production, potentially altering the natural history of the disease. Orthopedic surgeons must stay abreast of these developments, as they may impact the timing and need for traditional orthopedic interventions in the future. The long-term orthopedic impact of these therapies is an active area of research.

In summary, the orthopedic management of DMD is dynamic, evolving with deeper understanding of the disease and advancements in medical and surgical techniques. Orthopedic surgeons must not only be proficient in their surgical craft but also well-versed in the broader medical management of DMD, guided by the robust evidence base and consensus guidelines, to provide the best possible care for these complex patients.