Guideline sources The following summarized guidelines for the evaluation and management of duchenne muscular dystrophy (DMD) are prepared by our editorial team based on guidelines from the American College of Chest Physicians (ACCP 2023), the Heart Rhythm Society (HRS 2022), the European Society of Cardiology (ESC 2022), the American Heart Association (AHA/HRS/ACC 2018), the American Academy of Neurology (AAN 2016), and the British Thoracic Society (BTS 2012). 1 2 3 4 5 6 Guidelines 1. Diagnostic investigations Respiratory evaluation: As per ACCP 2023 guidelines, obtain pulmonary function testing to assist with management decisions in patients with neuromuscular disease at risk for respiratory complications. E Show 3 more As per BTS 2012 guidelines, obtain a clinical assessment of respiratory health directed towards identifying progressive muscle weakness, ability to cope with a respiratory infection, https://web.pathway.md/diseases/recYiGrJDFaS04FTU 1/7 6/29/23, 10:21 PM Duchenne muscular dystrophy Pathway aspiration, progression of scoliosis, and sleep-disordered breathing as part of every medical consultation of pediatric patients with neuromuscular disorders. B Show 3 more Sleep evaluation: Obtain assessment for sleep-disordered breathing at least annually in pediatric patients with neuromuscular disorders with any of the following: vital capacity < 60% of predicted B non-ambulance because of progressive muscle weakness B inability to walk B symptoms of obstructive sleep apnea E hypoventilation E clinically apparent diaphragmatic weakness E rigid spine syndrome. E Show 4 more Cardiac evaluation: As per ESC 2022 guidelines, obtain annual follow-up with at least a 12-lead ECG in patients with muscular dystrophies, even in the concealed phase of the disease. B As per HRS 2022 guidelines: Obtain screening cardiac imaging (echocardiography or cardiac MRI) in adult female carriers of a pathogenic or likely pathogenic variant for DMD, even in the absence of cardiac symptoms. B Obtain implantable cardiac monitoring in patients with DMD with symptoms of conduction disorder or arrhythmias without an obvious cause. B As per AHA 2018 guidelines, consider obtaining follow-up for the development of cardiac involvement in patients with muscular dystrophy, even if the patient is asymptomatic at presentation. C Assessment of dysphagia: Obtain a feeding assessment by a speech and language therapist including a videofluoroscopy swallow assessment if the swallow is thought to be unsafe in pediatric patients with neuromuscular disorders with a history of swallowing difficulties. E Obtain videofluoroscopy in pediatric patients with a history of recurrent chest infections or swallowing difficulties. E Assessment of pain: obtain routine pain assessment as part of standard clinical assessment in all pediatric and young patients with neuromuscular disorders. B 2. Respiratory support Airway clearance, manually assisted cough: As per ACCP 2023 guidelines, consider offering manually assisted cough techniques, independently or adding to other modalities (such as lung volume recruitment), in patients with reduced cough effectiveness. C As per BTS 2012 guidelines: https://web.pathway.md/diseases/recYiGrJDFaS04FTU 2/7 6/29/23, 10:21 PM Duchenne muscular dystrophy Pathway Teach augmented cough techniques in pediatric patients with ineffective cough (including 12 years old patients with cough peak flow < 270 L/min), particularly in case of previous episodes of deterioration with respiratory infections. B Offer manual cough assist and air-stacking methods when appropriate to achieve maximum insufflation capacity to improve cough efficiency. B Airway clearance (lung volume recruitment): Consider offering glossopharyngeal breathing for lung volume recruitment and airway clearance in patients with hypoventilation. C Consider offering regular lung volume recruitment (breath stacking) using a handheld resuscitation bag or mouthpiece in patients with reduced lung function or cough effectiveness. C Airway clearance, mechanical insufflation-exsufflation: As per ACCP 2023 guidelines, consider adding regular mechanical insufflation-exsufflation (cough assist device) in patients with reduced cough effectiveness not adequately improved with alternative techniques. C As per BTS 2012 guidelines, consider offering mechanical insufflation-exsufflation in very weak patients, in patients with loss of bulbar function, unable to cooperate with manual- assisted cough or air-stacking, or if these methods are ineffective. C Show 2 more Airway clearance, high-frequency chest wall oscillation: As per ACCP 2023 guidelines, consider offering high-frequency chest wall oscillation for secretion mobilization in patients with difficulties with secretion clearance. Consider combining high-frequency chest wall oscillation with airway clearance therapies, such as cough assistance or lung volume recruitment. C As per BTS 2012 guidelines, consider offering oscillatory techniques, such as high-frequency chest wall oscillation and intrapulmonary percussive ventilation, in pediatric patients with difficulty mobilizing secretions or having persistent atelectasis despite using other airway clearance techniques. C Airway clearance (sputum mobilization): ensure that appropriate emergency equipment (resuscitation bag and suction) is available when using sputum mobilizing techniques, in case of mobilizing large mucus plugs into the central airways where they may result in airway obstruction. E Airway clearance (nebulized saline): consider administering nebulized normal saline in pediatric patients with continued tenacious secretions. E Airway clearance (noninvasive ventilation): Use the patient's ventilator (in patients on regular night-time or diurnal noninvasive ventilation) to support deep breathing during airway clearance treatments and help prevent respiratory muscle fatigue. E Consider using humidification in pediatric patients on noninvasive ventilation and having tenacious airway secretions, with care taken to ensure that this does not result in a troublesome increase in oral secretions. E Airway clearance (acute infection): use airway clearance techniques during respiratory infection when oxygen saturation levels fall < 95% on breathing room air. Use different https://web.pathway.md/diseases/recYiGrJDFaS04FTU 3/7 6/29/23, 10:21 PM Duchenne muscular dystrophy Pathway methods of airway clearance if the techniques being used fail to increase oxygen saturation to 95%. B Noninvasive ventilation: As per ACCP 2023 guidelines, initiate noninvasive ventilation in patients with chronic respiratory failure. B Show 4 more As per BTS 2012 guidelines, initiate noninvasive ventilation in pediatric patients with neuromuscular disorders resulting in symptomatic nocturnal hypoventilation or daytime hypercapnia. B Show 13 more Invasive ventilation: consider offering invasive home mechanical ventilation via tracheostomy as an alternative to noninvasive ventilation in patients failing or intolerant of noninvasive ventilation (including extended daytime noninvasive ventilation use), worsening bulbar function, frequent aspiration, insufficient cough, episodes of chest infection despite adequate secretion management, or declining lung function. C 3. Medical management Corticosteroids: Offer prednisone at a preferred dose of 0.75 mg/kg/day to improve strength and pulmonary function in pediatric patients with DMD. B Consider offering prednisone to improve timed motor function, reduce the need for scoliosis surgery, and delay cardiomyopathy onset by 18 years of age. Recognize that prednisone 0.75 mg/kg/day is associated with a significant risk of weight gain, hirsutism, and cushingoid appearance. B Consider offering deflazacort to improve strength and timed motor function, delay age at loss of ambulation by 1.4-2.5 years, improve pulmonary function, reduce the need for scoliosis surgery, delay cardiomyopathy onset, and increase survival at 5-15 years of follow-up in pediatric patients with DMD. Recognize that deflazacort may be associated with a greater risk of cataracts than prednisone. C Opioids: consider offering nonpharmacological measures in patients with a subjective feeling of dyspnea directing treatment at the cause. E Show 2 more Anticoagulant therapy: initiate anticoagulation in patients with DMD and AF or atrial flutter according to established guidelines taking into consideration the risks of thromboembolism and bleeding on oral anticoagulation. B 4. Nonpharmacologic interventions Nutritional support: Provide feeding advice from a specialist therapist in pediatric patients with swallowing difficulties. E Provide a problem-orientated approach to nutrition aiming to minimize the risk of aspiration, optimize nutritional status, promote comfort, and balance the positive social consequences of https://web.pathway.md/diseases/recYiGrJDFaS04FTU 4/7 6/29/23, 10:21 PM Duchenne muscular dystrophy Pathway continued oral feeding. E 5. Therapeutic procedures Permanent pacemaker implantation: Perform permanent pacemaker implantation in patients with DMD with documented symptomatic bradycardia due to any degree of SND or AV block, if concordant with the patient's goals of care and clinical status. B Perform permanent pacemaker implantation in patients with DMD and third-degree or advanced second-degree AV block at any anatomical level, with or without symptoms, if concordant with the patient's goals of care and clinical status. B Cardiac resynchronization therapy: consider offering cardiac resynchronization therapy in patients with DMD with an LVEF 35% despite guideline-directed medical therapy with a combination of sinus rhythm, LBBB, QRS duration 150 ms, and NYHA class II-IV symptoms, or in patients with suspected RV pacing-induced cardiomyopathy or anticipated RV pacing 40%, if concordant with the patient's goals of care and clinical status. C Implantable cardioverter-defibrillator: As per ESC 2022 guidelines, consider performing ICD placement in patients with DMD and significant late gadolinium enhancement on cardiac MRI. C As per HRS 2022 guidelines: Perform ICD placement in patients with DMD with spontaneously occurring hemodynamically significant sustained VT or VF, if concordant with the patient's goals of care and clinical status. B Consider performing ICD placement in patients with DMD with an LVEF 35% despite guideline-directed medical therapy, if concordant with the patient's goals of care and clinical status. C As per AHA 2018 guidelines, perform ICD placement for primary and secondary prevention in patients with neuromuscular disorders according to the same indications as for patients with non-ischemic cardiomyopathy, if the expected meaningful survival is > 1 year. B 6. Perioperative care Preoperative planning: assess pediatric patients with neuromuscular disorders requiring surgery (including scoliosis surgery) by a multidisciplinary team before any intervention. E Show 3 more 7. Patient education General counseling: engage patients, parents, and carers in a process of mutual participation in decision-making with full disclosure of all information in a sensitive and timely fashion in order to make informed choices consistent with their own values and preferences requires physicians. B Show 2 more https://web.pathway.md/diseases/recYiGrJDFaS04FTU 5/7 6/29/23, 10:21 PM Duchenne muscular dystrophy Pathway 8. Follow-up and surveillance End-of-life care: provide periodic education on function including deactivation in patients (as well as their family members and/or healthcare decision makers) with neuromuscular disorders eligible for or having a pacemaker or ICD. B Show 5 more Clinical findings Symptoms Past medical history Cough Attention deficit hyperactivity disorder Dysphagia Autism spectrum disorder Dyspnea Developmental delay Exercise intolerance HF Fatigue OCD Gait disturbance Hypoventilation Neurological exam Muscle weakness Nausea Cognitive impairment Orthopnea ECG findings Sleeping disorder Vomiting AF Weight loss Ventricular arrhythmia Vital signs Genetic testing Tachycardia Dmd gene mutation O2 saturation Musculoskeletal exam Calf hypertrophy Lordosis Scoliosis ankle ROM muscle strength Imaging findings LVEF References 1. Akram Khan, Lindsy Frazer-Green, Reshma Amin et al. Respiratory Management of Patients with Neuromuscular Weakness: An American College of Chest Physicians Clinical Practice Guideline and Expert Panel Report. Chest. 2023 Mar 13;S0012 3692 23 00353 7. Open https://web.pathway.md/diseases/recYiGrJDFaS04FTU 6/7 6/29/23, 10:21 PM Duchenne muscular dystrophy Pathway 2. William J Groh, Deepak Bhakta, Gordon F Tomaselli et al. 2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders. Heart Rhythm. 2022 Oct;19 10):e61-e120. Open 3. Jeremy Hull, Roona Aniapravan, Elaine Chan et al. British Thoracic Society guideline for respiratory management of children with neuromuscular weakness. Thorax. 2012 Jul;67 Suppl 1:i1 40. Open 4. Sana M Al-Khatib, William G Stevenson, Michael J Ackerman et al. 2017 AHA/ACC/HRS Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society. Circulation. 2018 Sep 25;138 13):e272-e391. Open 5. Gloss D, Moxley RT rd, Ashwal S et al. Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology. 2016 Feb 2;86 5 465 72. Open 6. Katja Zeppenfeld, Jacob Tfelt-Hansen, Marta de Riva et al. 2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Eur Heart J. 2022 Aug 26;ehac262. Open https://web.pathway.md/diseases/recYiGrJDFaS04FTU 7/7