General care
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Outline a transition plan with the patient and family
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Attention to fluid intake and constipation |
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Consider swallowing assessment6161 Buu MC. Respiratory complications, management and treatments for neuromuscular disease in children. Curr Opin Pediatr 2017;29 (03):326-333. Doi: 10.1097/MOP.0000000000000498 https://doi.org/10.1097/MOP.000000000000...
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Assess nutritional and swallowing status. Consider gastrostomy |
Bone health and orthopedic management
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Monitor scoliosis on every medical visit (physical inspection) and on regular imaging. Provide adaptation of the wheelchair. Eventually, in some patients, surgical spinal fusion may be needed22 Birnkrant DJ, Bushby K, Bann CM, et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol 2018;17(03):251-267. Doi: 10.1016/ S1474-4422(18)30024-3 https://doi.org/10.1016/S1474-4422(18)30...
,44 Araujo APQC, Nardes F, Fortes CPDD, et al. Brazilian consensus on Duchenne muscular dystrophy. Part 2: rehabilitation and systemic care. Arq Neuropsiquiatr 2018;76(07):481-489. Doi: 10.1590/0004-282x20180062 Erratum in: Arq Neuropsiquiatr. 2018 Oct;76(10):1. PMID: 30066800 https://doi.org/10.1590/0004-282x2018006...
,5656 Ward LM, Hadjiyannakis S, McMillan HJ, Noritz G, Weber DR. Bone Health and Osteoporosis Management of the Patient With Duchenne Muscular Dystrophy. Pediatrics 2018;142(Suppl 2): S34-S42. Doi: 10.1542/peds.2018-0333E https://doi.org/10.1542/peds.2018-0333E...
(level of evidence: 5D; class of recommendation: D) |
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To screen for osteopenia, thoracolumbar spine radiography (ask for Genant Score Calculation to be calculated by a radiologist) is recommended biannually when using corticosteroids and less frequently in those patients not receiving steroids or at any time in axial pain. If available, a dual-energy x-ray absorptiometry scan can help monitor the bone over time44 Araujo APQC, Nardes F, Fortes CPDD, et al. Brazilian consensus on Duchenne muscular dystrophy. Part 2: rehabilitation and systemic care. Arq Neuropsiquiatr 2018;76(07):481-489. Doi: 10.1590/0004-282x20180062 Erratum in: Arq Neuropsiquiatr. 2018 Oct;76(10):1. PMID: 30066800 https://doi.org/10.1590/0004-282x2018006...
,5656 Ward LM, Hadjiyannakis S, McMillan HJ, Noritz G, Weber DR. Bone Health and Osteoporosis Management of the Patient With Duchenne Muscular Dystrophy. Pediatrics 2018;142(Suppl 2): S34-S42. Doi: 10.1542/peds.2018-0333E https://doi.org/10.1542/peds.2018-0333E...
(level of evidence: 5D, class of recommendation: D; expert opinion: 38.5% strongly agree; 46.2% agree) |
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If bisphosphonates use is required, measure cystatin-C before each infusion (risk of renal failure) (expert opinion: 38.5% strongly agree; 38.5% agree). The use of alendronate or oral bisphosphonates is not recommended (►Table 3)22 Birnkrant DJ, Bushby K, Bann CM, et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol 2018;17(03):251-267. Doi: 10.1016/ S1474-4422(18)30024-3 https://doi.org/10.1016/S1474-4422(18)30...
,5656 Ward LM, Hadjiyannakis S, McMillan HJ, Noritz G, Weber DR. Bone Health and Osteoporosis Management of the Patient With Duchenne Muscular Dystrophy. Pediatrics 2018;142(Suppl 2): S34-S42. Doi: 10.1542/peds.2018-0333E https://doi.org/10.1542/peds.2018-0333E...
(level of evidence: 5D; class of recommendation: D; expert opinion:.1% agree; 38.5% disagree) |
Respiratory management
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Annual pulmonary function (spirometry, maximal respiratory pressures, and peak cough flow) (level of evidence 2B, class of recommendation B) |
Implementation of proactive techniques for pulmonary recruitment |
Consider type-1 polysomnography in patients with signs of sleep-disordered breathing, overweight, and those who fail to perform lung function tests well. |
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Assessment of the presence of dyspnea in different situations, dysphagia, and signs and symptoms of alveolar hypoventilation* |
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With loss of ambulation, perform a pulmonary functional assessment at least twice a year, with spirometry, maximal respiratory pressures and peak cough flow, oximetry, and assessment of CO2, or gasometry. |
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Annual polysomnography with CO2 measurement |
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Consider ventilatory support |
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Ventilation by tracheostomy has been an increasingly controversial topic and should be a decision shared with the patient and their family (level of evidence: 5D; class of recommendation: D) |
Cardiac management
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Annual Holter monitoring starting at age of 10 years in patients with normal electrocardiogram and starting at any age in the presence of a cardiac arrhythmia |
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Consider heart transplantation (patients with good lung function and mild peripheral muscle change) |
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Consider implantable cardioverter defibrillators (ICDs) if a symptomatic and complex arrhythmia is present |
Mental health
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Attention to learning difficulties in school and cognitive and behavioral comorbidities |
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Special attention to mental health |