Successful healing of wounds is achievable in patients with muscular dystrophy with an interdisciplinary approach. What role does the outpatient clinic play?
Patients who live with muscular dystrophy and present with wounds are oftentimes medically complex and therefore can be perplexing to treat. Knowledge of the unique medical diagnosis, associated risk factors, comorbidities, and how these affect wound development and healing are important to identify and contemplate for effective treatment strategies.
This article will review the rare diagnosis of muscular dystrophy, the historic demise of this patient population, the evolution of treatment in recent decades, and the cumulative implementation of technology on increasing patients’ lifespans. The relationship between this physically disabling condition, recent medical interventions, and the subsequent intensified potential for skin compromise are addressed. In addition, appropriate preventive strategies, multidisciplinary team management, updated care considerations, and challenges are highlighted. The inclusion of case studies emphasizes these points, as do discussions on practical management strategies, updated care considerations, patient and family teaching tools, and optimal wound treatments to be implemented by the multidisciplinary care team.
Muscular dystrophy (MD), a rare neuromuscular disease, can lead to the development of wounds and altered skin integrity. Generally, skin breakdown is deemed to be a preventable condition. However, in these complex and oftentimes medically fragile patients, wounds can occur despite implementing appropriate preventative measures. Genetic disposition, altered muscle mass-to-fat ratio, slowly progressive declining mobility, health changes, an intensifying dependence on others over time, and a multitude of confounding factors create the environment for skin comorbidity. Muscular dystrophies then are a rare group of disorders under the umbrella of the disability population. Many muscle diseases fit into this category: Becker muscular dystrophy and limb-girdle dystrophies (milder forms), and the more devastating and most common inherited muscle disease in children—Duchenne muscular dystrophy (DMD).1 DMD is a lethal X-linked recessive neuromuscular disorder caused by mutations in the dystrophin gene that results in absent or insufficient functional dystrophin, a cytoskeletal protein that enables the strength, stability, and functionality of myofibers.2 The muscle fiber replacement by fat and connective tissue results in relentless skeletal, respiratory, and cardiac muscle weakness over time and eventual premature death.1 Becker muscular dystrophy is named after the German doctor Peter Emil Becker, who first described this variant of DMD in the 1950s. Similar to DMD, Becker muscular dystrophy allows the voluntary muscles to function better than they do in DMD. The heart muscle, however, can be affected similarly to the way it is in DMD.
Muscular dystrophy is identified in childhood, noting a progressive loss of motor skills. DMD may be suspected in pediatric patients with any of the most commonly reported associated signs and symptoms (see Table 12).
Early identification of these signs, prompt referral to specialists and accurate diagnosis of DMD are crucial aspects of care. Blood testing notes an elevated serum creatinine kinase level. Genetic testing is then required to detect gene deletion or duplication and confirms the diagnosis in approximately 70%. If inconclusive, gene sequencing may be required or a muscle biopsy performed to diagnose DMD. This leads to the reported prevalence of DMD: 15.9 and 19.5 cases per 100,000 live births in the United States and the United Kingdom, respectively.2 The natural history of DMD causes progressive loss of muscle strength, loss of ambulation skills (mean age of 10.0 years), and associated impaired cardiac (reduced left ventricular ejection fraction) and respiratory/lung function (decreased forced vital capacity).2 Life expectancy in this population was reported in early adulthood (premature death in their twenties usually due to cardiorespiratory failure).1
Glucocorticoid treatment at first showed short-term benefits on strength, timed function tests, and forced vital capacity in a randomized clinical trial in 1989. Further benefits of long-term steroid use (prednisone and deflazacort) have been shown to include delaying the age of loss of ambulation (by 1.5-2.5 years), preserved upper limb and respiratory function, avoidance of scoliosis surgery, and cardiomyopathy. A steroid regimen before substantial physical decline is now standard of care to alter the trajectory of this disease and reduce the risk of death.3-5 These disease-modifying medicines can also improve quality of care and reduce need for emergency treatment and hospitalization.6 Technological advances with the use of noninvasive ventilation support (continuous positive airway pressure [CPAP] devices) initiated early in the course of treatment have also increased survival. In addition, invasive treatment with tracheostomy and ventilators, if deemed acceptable by the patient and family, can increase life expectancy further. A multidisciplinary team approach provides optimal management of this rare condition and positively impacts the health of these patients. These professionals typically include primary care providers, neurologists, cardiologists, bone health specialists, pulmonologists, pulmonary technicians, orthotists, social workers, orthopedic surgeons, speech therapists, occupational therapists, physical therapists, registered dietitians, nurses, and case managers. Comprehensive care focuses on maintenance and support of muscle strength and function, prevention and treatment of spinal deformity, prevention of joint contracture and deformity, treatment of respiratory complications, and prevention and treatment of cardiomyopathy. In addition, through regular primary care, the medical home model, specialty care, therapy, and optimal outpatient and home-based management as well as anticipatory diagnostic and therapeutic strategies, prevention, early identification, and treatment of predictable complications can be achieved.2,5,7
Muscular Dystrophy Factors Impacting Skin Integrity
Patients living with DMD are a high-risk population for skin alterations. Skin breakdown includes, but is not limited to, rashes, nonhealing surgical wounds, burns, and pressure injuries. Generally, a litany of compromising and confounding intrinsic factors and external elements contribute to the cause of disrupted skin integrity in the disabled patient and can impair healing of skin (see Table 28-10).
Some of these internal factors may apply to the DMD-unique patient and should be identified and addressed, with an attempt to modify and improve the issue. For instance, the patient living with comorbid obesity should be prescribed a protein/vitamin-rich/calorie-controlled diet, appropriate nutritional counselling, routine “well” visits by the primary provider for weight checks, and be given guidance for appropriate exercise/fitness programs and be in contact with a wheelchair-accessible facility. Patients living with anemia should have a comprehensive workup to determine the cause and should (likely) receive iron supplementation treatment. Patients experiencing venous stasis and bilateral pedal/edema or lower extremity swelling should utilize compression stockings. Patients with communicative challenges (e.g., tracheostomy) should be provided an alternative communication device that can be accessed to help relay information, such as when one needs water or food, or use the bathroom. Some devices are highly sophisticated and provide vocal commands from the patient while others are more simplified and use picture boards to indicate needs and wants. These devices can help improve hydration, decrease urinary incontinence, and help prevent skin breakdown. In addition, young patients may need encouragement to speak up and practice giving directions regarding care needs as an exercise in independence.
External factors should be identified and rectified. The patient with mobility impairments requiring the use of a wheelchair or relying on others for ambulation should have an appropriate-sized wheelchair with a specialty cushion, and possibly a specialized support surface for bed. Appropriate education on bed positioning and transfer training is also needed to decrease external elements such as sheering and friction. Transfer aids and lift devices may be useful in prevention. Ideally, a home visiting nurse or therapist should ensure effectiveness of patient/family training and identify any obstacles from the outset.
Skin Risk Assessments & Potential for Pressure Injuries
The National Pressure Ulcer Advisory Panel (NPUAP) recommends the performance of a total risk assessment on all patients. Some of the risk-assessment tools include the Braden Scale, Braden Q Scale, and the Glamorgan Scale. The Braden Q and Glamorgan scales are reliable and pediatric-specific to identify children who are at risk for the development of pressure injuries. Components of the skin-assessment scores may include activity and mobility levels, body mass index, skin maturity/integrity, ambient temperature/environment, nutritional indicators, perfusion and oxygenation, presence of an external/medical device and duration of hospital stay.8-10 Skin risk assessments and nutritional screening for patients being admitted to the hospital are routine. However, these tools and services can be utilized and structured for the outpatient and home care settings, and should be instituted when a change in health status occurs. While it is imperative to use the risk-assessment score as a guiding tool, it is also important to evaluate patients based on their overall clinical picture. Thus, the patient’s primary care provider and all specialists should address skin integrity at each health/wellness and sick visit. Additionally, patients living with DMD who have been identified as at risk or already have areas of impaired skin integrity will be at higher risk for development of pressure injuries due to factors during surgery: immobility, positioning on hard surfaces, inability to feel pain, pressure or shearing, and inability to change positioning. Other risk factors that should be considered for these patients undergoing surgery include duration of immobility pre- and postoperatively, length of surgery, hypotensive episodes, and lower core temperature.10
All bedfast or chairfast individuals are at risk for development of a pressure injury. Patients who have developed 1 pressure injury are considered higher risk for additional occurrences and are at risk for progression of any existing pressure injuries. The location of these injuries can differ based on age. Contrast the most common pressure points in children compared to pressure areas in adults (see Table 310). Refer to the NPUAP for pressure injury staging definitions.11 Notably, both adults and children are considered at risk for the development of pressure injuries when there is a medical device in use.10
Patients living with DMD often rely on equipment or medical devices to sustain their life (such as G-tubes for the nutritionally compromised and CPAP masks to ameliorate advanced respiratory disease) or to improve function and mobility (e.g., orthotic devices, wheelchairs). Guardedly, the use of these medical devices can cause skin breakdown. In addition, prolonged use can result in pressure injuries. Fifty percent of all wounds in children with DMD are a direct result of equipment utilized.10 Ensuring that medical devices are sized appropriately and have the correct fit, as per the manufacturer’s specifications, will help to avoid excessive pressure. Prophylactic dressings should also be strongly considered for patients using a medical device in order to actively prevent pressure injuries.10
Prevention Program & Pressure Injury Treatment
A focused prevention program with individualized strategies employed based on the patient’s abilities and comprehensive risk factors should be in place. Patients and families must be actively engaged in the prevention and treatment of skin-related issues. As a vulnerable group, the DMD population requires increased surveillance that, at the very least, includes twice-per-day head-to-toe skin assessments (or more often when new equipment is used or a when there is a decline in health status).10
Prevention is the first line of treatment for pressure injuries. However, if subtle skin changes or signs of injury are noted, elimination of pressure is recommended. If pressure is being caused by a medical device, the device should be repositioned or removed from the skin at regular intervals to reassess the area and to remove pressure. For example, if a brace creates a red mark or skin discoloration, it should be removed until the skin area resolves. Brace modifications may be required before reapplication. However, this first strategy to remove the pressure, can be more difficult when the device is an absolute necessity. While ventilator tubing can be adjusted or repositioned, a tracheostomy or G-tube needs to stay in place. Sometimes, creativity to pad the faceplate or a variation of the device has to be carefully designed. Other respiratory devices, such as CPAP or BiPAP masks, should be removed regularly for skin checks (at the very least, twice daily). Anticipatory guidance and basic skin treatment education should be provided to patients and families, ideally before a wound develops. With simple guides or tools, this can be done effectively (see Table 4). If a skin wound is acknowledged and the pressure removed, the open or draining wound should be cleaned, covered with a dressing, and a call should be made to the medical team. Prompt recognition and early treatment are key to management. Skillful providers, including wound specialists, medical, or nursing personnel should be available once alterations in skin integrity have been identified in order to systematically assess the patient, manage related factors, and direct treatment for healing. A strong partnership between the patient, family, and health care providers allows for effective communication, promotes team management, and offers the best chance for successful wound closure.
Patients diagnosed with muscular dystrophy who develop wounds are typically complex, with multifactorial causes and relationships to the breakdown of their integumentary system (as noted in the 2 cases provided in this article). The entire interdisciplinary team should be involved to help identify risks, encourage prevention techniques, perform assessments according to practice scope, and inquire about skin integrity at each visit. Providers and wound specialists who comprehensively evaluate these patients, institute appropriate wound treatments, and effectively offer education can reach successful healing of wounds.
Diane Dudas Sheehan is a family nurse practitioner in the Division of Orthopaedic Surgery and Sports Medicine at Ann & Robert H. Lurie Children’s Hospital of Chicago and is Assistant Professor in the Department of Physical Medicine And Rehabilitation at the Feinberg School of Medicine of Northwestern University. She may be reached at firstname.lastname@example.org.
Kathryn Chapman is a pediatric nurse practitioner and certified wound, ostomy nurse in the Division of Pediatric Surgery at Ann & Robert H. Lurie Children’s Hospital of Chicago. She may be reached at email@example.com. Neither author has any relevant financial disclosures.
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