Elsevier

The Lancet Neurology

Volume 9, Issue 2, February 2010, Pages 177-189
The Lancet Neurology

Review
Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care

https://doi.org/10.1016/S1474-4422(09)70272-8Get rights and content

Summary

Optimum management of Duchenne muscular dystrophy (DMD) requires a multidisciplinary approach that focuses on anticipatory and preventive measures as well as active interventions to address the primary and secondary aspects of the disorder. Implementing comprehensive management strategies can favourably alter the natural history of the disease and improve function, quality of life, and longevity. Standardised care can also facilitate planning for multicentre trials and help with the identification of areas in which care can be improved. Here, we present a comprehensive set of DMD care recommendations for management of rehabilitation, orthopaedic, respiratory, cardiovascular, gastroenterology/nutrition, and pain issues, as well as general surgical and emergency-room precautions. Together with part 1 of this Review, which focuses on diagnosis, pharmacological treatment, and psychosocial care, these recommendations allow diagnosis and management to occur in a coordinated multidisciplinary fashion.

Introduction

In part 1 of this Review, the importance of multidisciplinary care was underscored in the context of diagnosis and pharmacological and psychosocial management of Duchenne muscular dystrophy (DMD), emphasising that no one aspect of the care of this disease can be taken in isolation.1 This model of care emphasises the value of multidisciplinary involvement to anticipate early changes in many systems and to manage the wide spectrum of complications that can be predicted in DMD. We applied this model of care to the patient and family across the different stages of the disease. The optimum delivery of care by rehabilitation, cardiovascular, gastroenterology/nutrition, orthopaedic/surgical, and respiratory specialties is presented in this second part of the Review. As before, the RAND Corporation–University of California Los Angeles Appropriateness Method was used2 (full details of the methods are described in part 1 of this Review1).

Section snippets

Management of muscle extensibility and joint contractures

Decreased muscle extensibility and joint contractures in DMD occur as a result of various factors, including loss of ability to actively move a joint through its full range of motion, static positioning in a position of flexion, muscle imbalance about a joint, and fibrotic changes in muscle tissue.3, 4, 5, 6, 7, 8 The maintenance of good ranges of movement and bilateral symmetry are important to allow optimum movement and functional positioning, to maintain ambulation, prevent development of

Stretching and positioning

Effective stretching of the musculotendinous unit requires a combination of interventions, including active stretching, active-assisted stretching, passive stretching, and prolonged elongation using positioning, splinting, orthoses, and standing devices.9, 10, 12, 17, 18, 19, 20 As standing and walking become more difficult, standing programmes are recommended.

Active, active-assisted, and/or passive stretching to prevent or minimise contractures should be done a minimum of 4–6 days per week for

Surgical intervention for lower-limb contractures

No unequivocal situations exist in which lower-limb contracture surgery is invariably indicated. If lower-limb contractures are present despite range-of-motion exercises and splinting, there are certain scenarios in which surgery can be considered.15, 25, 26, 27, 28, 29, 30, 31, 32 In such cases, the approach must be strictly individualised.

Joints most amenable to surgical correction, and even subsequent bracing, are the ankles, and to a slightly lesser extent, the knees. The hip responds

Assistive/adaptive devices for function

AFOs are not indicated for use during ambulation because they typically limit compensatory movements needed for efficient ambulation, add weight that can compromise ambulation, and make it difficult to rise from the floor. During the late ambulatory stage, a KAFO with locked knee might prolong ambulation but is not essential.

During the early ambulatory stage, a lightweight manual mobility device is appropriate to allow the child to be pushed on occasions when long-distance mobility demands

Recommendations for exercise

Limited research has been carried out on the type, frequency, and intensity of exercise that is optimum in DMD.36, 37, 38, 39, 40, 41, 42, 43, 44, 45, 46, 47, 48 Many recommendations are made on the basis of the known pathophysiology and animal studies showing contraction-induced muscle injury in dystrophinopathy.49

Submaximum, aerobic exercise/activity is recommended by some clinicians, especially early in the course of the disease when residual strength is higher, whereas others emphasise

Spinal management

Patients not treated with glucocorticoids have a 90% chance of developing significant progressive scoliosis28, 51 and a small chance of developing vertebral compression fractures due to osteoporosis. Daily glucocorticoid treatment has been shown to reduce the risk of scoliosis;52, 53 however, risk of vertebral fracture is increased.54, 55 Whether glucocorticoids reduce the risk of scoliosis in the long term or simply delay its onset is, as yet, unclear. Spinal care should involve an experienced

Respiratory management

The aim of respiratory care is to allow timely prevention and management of complications. A structured, proactive approach to respiratory management that includes use of assisted cough and nocturnal ventilation has been shown to prolong survival.64, 65, 66 Patients with DMD are at risk of respiratory complications as their condition deteriorates due to progressive loss of respiratory muscle strength. These complications include ineffective cough,67, 68, 69, 70, 71, 72, 73, 74, 75 nocturnal

Cardiac management

Cardiac disease in DMD manifests most often as a cardiomyopathy and/or cardiac arrhythmia.104, 105, 106 The myocardium at autopsy displays areas of myocyte hypertrophy, atrophy, and fibrosis.107 Progressive cardiomyopathy is currently a major source of morbidity and mortality in DMD and Becker muscular dystrophy, particularly since advances have been made in the treatment of the muscle disease and pulmonary function.65, 85, 89, 108 The natural history of cardiac disease in DMD requires further

Nutritional, swallowing, gastrointestinal, and speech and language management

Patients might be at risk of both undernutrition/malnutrition and being overweight/obese at different ages and under different circumstances, in addition to deficiencies in calorie, protein, vitamin, mineral, and fluid intake. In later stages, pharyngeal weakness leads to dysphagia, further accentuating nutritional issues and gradual loss of respiratory muscle strength, combined with poor oral intake, and can result in severe weight loss and the need to consider tube feeding. Constipation might

Pain management

Pain of varying intensity occurs in DMD.145, 146 Effective pain management requires accurate determination of the cause. Interventions to address pain include physical therapy, postural correction, appropriate and individualised orthoses, wheelchair and bed enhancements, and pharmacological approaches (eg, muscle relaxants and anti-inflammatory medications). Pharmacological interventions must take into account possible interactions with other medications (eg, steroids and non-steroidal

Surgical considerations

Various situations, related (muscle biopsy, joint contracture surgery, spinal surgery, and gastrostomy) and unrelated (intercurrent acute surgical events) to DMD, might require the use of general anaesthesia. There are several condition-specific issues that need to be taken into account for the planning of safe surgery. Surgery in a patient who has DMD should be done in a full-service hospital that has experience of patients with DMD. In addition, as with any situation in which patients are on

Emergency-care considerations

Because of the involvement of different systems in DMD, many factors must be taken into account on presentation of a patient to an emergency room. From the outset, the diagnosis, current medication, respiratory status, cardiac status, and associated medical disorders should be made clear to the emergency-room staff. Because many health professionals are not aware of the potential management strategies available for DMD, the current life expectancy and expected good quality of life should also

Conclusions

This Review is the result of the first international collaboration of a uniquely broad group of experts in DMD management to develop comprehensive care recommendations. This effort was supported by a rigorous method—the RAND Corporation–University of California Los Angeles Appropriateness Method2—which expands the consensus-building process, not only to establish the parameters for optimum care, but also to identify areas of uncertainty in which further work is needed.

A model of care emerged

Search strategy and selection criteria

Peer-reviewed literature was searched using the key search terms of “Duchenne” or “muscular dystrophy”, or both, paired with one of 410 other search terms related to a comprehensive list of assessment tools and interventions used in DMD management. The full list of search terms is available on request. The databases used included Medline, Embase, Web of Science, and the Cochrane Library. Initial inclusion criteria consisted of available abstracts of human studies published in English

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