Duchenne muscular dystrophy (DMD) is a severe, progressive disease that aff ects 1 in 3600–6000 live male births. Although guidelines are available for various aspects of DMD, comprehensive clinical care recommendations do not exist. The US Centers for Disease Control and Prevention selected 84 clinicians to develop care recommendations using the RAND Corporation–University of California Los Angeles Appropriateness Method. The DMD Care Considerations Working Group evaluated assessments and interventions used in the management of diagnostics, gastroenterology and nutrition, rehabilitation, and neuromuscular, psychosocial, cardiovascular, respiratory, orthopaedic, and surgical aspects of DMD. These recommendations, presented in two parts, are intended for the wide range of practitioners who care for individuals with DMD. They provide a framework for recognising the multisystem primary manifestations and secondary complications of DMD and for providing coordinated multidisciplinary care. In part 1 of this Review, we describe the methods used to generate the recommendations, and the overall perspective on care, pharmacological treatment, and psychosocial management.

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Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

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.

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

Dr Benjamin A H Jensen Dr Aarabi Dr Mera A Ababneh Dr Albert Abaka-Yawson Dr Mohamed Salah Abassi Dr Getahun Abate Dr Tarek Mohamed Abd ElAziz Dr Rehab M Abd El-Baky Dr Amir Abdoli Dr Akebe Luther King Abia Dr Fatma Ben Abid Prof Dr Khaled M Aboshanab Mr Ashenafi Abossie Dr Abouelfetouh Dr Maja Abram Dr Sawsan Abuhammad Dr Abulebda Professor Ali Acar Mr Oliver Okoth Achila Dr Stefan Acosta Dr Azeez Adeboye Dr Sanjib Adhikari Prof Dr Muhammad Sohail Afzal Dr Fabio Aguiar-Alves Dr Thomas Agyarko-Poku Dr Irfan Ahmad Dr Suhail Ahmad Dr Hafiz Ahmad Dr Elham Ahmadi Dr Zahra Ahmadinejad Dr Ehsan Ahmadpour Dr Haroon Ahmed Dr Firoz Ahmed Dr Wan M Aizat Dr Abraham Ajayi Dr Ali Akbar Dr Sami Akbulut Dr Hashaam Akhtar Professor Ala-Eddin Al Moustafa Dr Al-Hasan Dr Ali Al-Jumaili Dr Alexandre Alanio Dr Eliana Alcaraz Dr Maria D Alcantar Curiel Dr Gaetano Alfano Prof Dr Abdelazeem Algammal Dr Iftikhar Ali Dr Musa Mohammed Ali Dr Ihsan Ali Dr Mohammad Javed Ali Dr Ali Muhsin Ali Dr Shahzad Ali Dr Sheikh Alif Professor Michael Alifrangis Dr Reem Aljindan Prof Dr Karel Allegaert Dr Rosalie Allison Dr Ammar Almaaytah Dr Dhary Alewy Almashhadany Dr Tarig Alnour Dr Bandar Alosaimi Mr Abdullah Alqarihi Dr Alian A Alrasheedy Dr Eduardo Amaral Dr Gul Ambreen Professor Gobena Ameni Dr Ahmed Ammar Dr Linda Amoah Professor Luca Ampollini Dr Edina Amponsah-Dacosta Dr Mirko Ancillotti Ms Motswedi Anderson Dr Angel Andrade Dr Sergio Angel Dr Angkasekwinai Dr Archana Angrup Dr Enoch Aninagyei Dr Shamshul Ansari Dr Beena Antony Dr Nopporn Apiwattanakul Dr Amjad Islam Aqib Professor Mohammad Arabestani Dr Sheila Araujo Teles Dr Balew Arega Dr Gunjan Arora Dr Muhammad Imran Arshad Dr Yasir Arshad Dr Kovy Arteaga-Livias Dr Mohd Hafiz Arzmi Dr Mohammad Reza Asadi Karam Dr Takanori Asakura Dr Prince Asare Dr Mohammad Asgharzadeh Dr Hossam Ashour Dr Abdullah Tarik Aslan Dr Alaa Atamna Dr Nur Atik Dr Meiji Soe Aung Dr Wah Wah Aung Professor Sergey Avdeev Dr Akshay Avula Dr Babafela Awosile Dr Gajendra Kumar Azad Dr Davood Azadi Mr Zelalem Nigussie Azene Dr Afzal Azim Mr Muhammad Majid Aziz Dr Martin Sima Dr Azer Ozad Duzgun Dr Kenan Cetin Dr Aysegul Copur Cicek Dr Ines Bado Dr Fang Bai Dr J Kevin Baird Dr Andrea Ballini Prof Dr Zulqarnain Baloch Dr Joseph Baruch Baluku Dr Banaei Prof Dr Tuhina Banerjee Dr Tuhina Banerjee Mr Agegnehu Bante Dr Humberto Barrios Camacho Dr Mazin Barry Dr Bruno Barsic Dr Christopher S von Bartheld Dr Dariusz Bartosik Dr Joseph Baruch Baluku Dr Rasha Barwa Dr Saurav Basu Dr George Bayliss

Infection and Drug Resistance

The complexity of central breathing disturbances during sleep has become increasingly obvious. They present as central sleep apnoeas (CSAs) and hypopnoeas, periodic breathing with apnoeas, or irregular breathing in patients with cardiovascular, other internal or neurological disorders, and can emerge under positive airway pressure treatment or opioid use, or at high altitude. As yet, there is insufficient knowledge on the clinical features, pathophysiological background and consecutive algorithms for stepped-care treatment. Most recently, it has been discussed intensively if CSA in heart failure is a "marker" of disease severity or a "mediator" of disease progression, and if and which type of positive airway pressure therapy is indicated. In addition, disturbances of respiratory drive or the translation of central impulses may result in hypoventilation, associated with cerebral or neuromuscular diseases, or severe diseases of lung or thorax. These statements report the results of an European Respiratory Society Task Force addressing actual diagnostic and therapeutic standards. The statements are based on a systematic review of the literature and a systematic two-step decision process. Although the Task Force does not make recommendations, it describes its current practice of treatment of CSA in heart failure and hypoventilation.

https://erj.ersjournals.com/content/erj/49/1/1600959.full.pdf

Definition, discrimination, diagnosis and treatment of central breathing disturbances during sleep

Increasing numbers of patients are surviving episodes of prolonged mechanical ventilation or benefitting from the recent availability of userfriendly noninvasive ventilators. Although many publications pertaining to specific aspects of home mechanical ventilation (HMV) exist, very few comprehensive guidelines that bring together all of the current literature on patients at risk for or using mechanical ventilatory support are available. The Canadian Thoracic Society HMV Guideline Committee has reviewed the available English literature on topics related to HMV in adults, and completed a detailed guideline that will help standardize and improve the assessment and management of individuals requiring noninvasive or invasive HMV. The guideline provides a disease-specific review of illnesses including amyotrophic lateral sclerosis, spinal cord injury, muscular dystrophies, myotonic dystrophy, kyphoscoliosis, post-polio syndrome, central hypoventilation syndrome, obesity hypoventilation syndrome, and chronic obstructive pulmonary disease as well as important common themes such as airway clearance and the process of transition to home. The guidelines have been extensively reviewed by international experts, allied health professionals and target audiences. They will be updated on a regular basis to incorporate any new information.

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Home mechanical ventilation: A Canadian Thoracic Society clinical practice guideline

Survival in Amyotrophic Lateral Sclerosis With Home Mechanical Ventilation: The Impact of Systematic Respiratory Assessment and Bulbar Involvement

Outcome of non-invasive domiciliary ventilation in elderly patients

Long-term mechanical ventilation in amyotrophic lateral sclerosis

Noninvasive positive pressure ventilation prevents postoperative pulmonary complications in chronic ventilators users

Home mechanical ventilation (HMV) is an efficient alternative in the treatment of patients with chronic respiratory failure secondary to restrictive mechanical disorders (neuromuscular disease, such as Duchenne's disease, thorax deformities due to kyphoscoliosis or tuberculosis sequelae). The case of a patient with severe kyphoscoliosis in the phase of chronic respiratory failure (PaO2 34 mmHg and PaCO2 61 mmHg, breathing ambient air) is presented in which, following the failure of negative pressure mechanical ventilation ("poncho"), positive pressure ventilation was tested with a silicon made-to-measure nasal mask as the access via. Adaptation to HMV was good with the patient using the ventilation nightly. Following 12 months of treatment the patient is able to carry out everyday activities and arterial gasometry breathing ambient air is PaO2 77 mmHg and PaCO2 43 mmHg.

F. Manresa

Papers

Survival in Amyotrophic Lateral Sclerosis With Home Mechanical Ventilation: The Impact of Systematic Respiratory Assessment and Bulbar Involvement

Outcome of non-invasive domiciliary ventilation in elderly patients

Long-term mechanical ventilation in amyotrophic lateral sclerosis

Noninvasive positive pressure ventilation prevents postoperative pulmonary complications in chronic ventilators users

[Long-term effects of home mechanical ventilation with positive pressure using a nasal mask].