Consensus Statement on the Management of Duchenne Muscular Dystrophy in Saudi Arabia During the Coronavirus Disease 2019 Pandemic

Background: The coronavirus disease 2019 (COVID-19) pandemic has caused overwhelming challenges in healthcare worldwide. During such an outbreak, some needs of high-risk groups who require regular follow-ups and long-term management are not met. The vulnerable populations include patients with Duchenne muscular dystrophy (DMD). Duchenne muscular dystrophy is characterized by respiratory complications caused by muscle weakness. Hence, patients with this condition are at high risk of severe diseases including COVID-19.Methods: To standardize care and provide optimal treatment to DMD patients in Saudi Arabia during the COVID-19 pandemic, a panel of experts including neurologists and pediatricians consolidated recommendations for healthcare professionals and caregivers.Results: During this pandemic, substituting unnecessary clinic visits with virtual clinic services was highly recommended, if possible, without compromising clinical outcomes. Duchenne muscular dystrophy patients with respiratory complications should be closely monitored, and those with cardiovascular complications must continue taking angiotensin-converting enzyme inhibitors or angiotensin receptor blockers. Moreover, individualized home-based rehabilitation management was preferred. Glucocorticoid and new gene correction therapies should be continued. However, new gene correction therapy must be post-poned in newly diagnosed patients. A multidisciplinary decision was required before the initiation of hydroxychloroquine based on the COVID-19 treatment protocol.Conclusion: COVID-19 has caused challenges and transformed access to health care. However, these limitations have provided opportunities for the health care system to adapt. Further, telemedicine has become a reliable platform for follow-up appointments that should be conducted by a multidisciplinary team including physicians, dieticians, and physical therapists.

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Precision Medicine and Exercise Therapy in Duchenne Muscular Dystrophy

Sports ◽

10.3390/sports7030064 ◽

2019 ◽

Vol 7 (3) ◽

pp. 64 ◽

Cited By ~ 4

Author(s):

Matthew Kostek

Keyword(s):

Physical Activity ◽

Health Care ◽

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Precision Medicine ◽

Health Care Professionals ◽

Disease Classification ◽

Muscle Pathology ◽

Activity Levels ◽

New Gene

Precision medicine is being discussed and incorporated at all levels of health care and disease prevention, management, and treatment. Key components include new taxonomies of disease classification, the measurement and incorporation of genetics and “omics” data, biomarkers, and health care professionals who can optimize this information for a precision approach to treatment. The study and treatment of Duchenne Muscular Dystrophy is making rapid advances in these areas in addition to rapid advances in new gene and cell-based therapies. New therapies will increase the variability in disease severity, furthering a need for a precision-based approach. An area of therapy that is rarely considered in this approach is how the physiology of muscle contractions will interact with these therapies and a precision approach. As muscle pathology improves, physical activity levels will increase, which will likely be very beneficial to some patients but likely not to all. Physical activity is likely to synergistically improve these therapies and can be used to enhance muscle health and quality of life after these therapies are delivered using the tools of precision medicine.

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Ultrastructural Localisation Of Ricinus Communis-I Lectin To Skeletal Muscle From Foetuses At High Risk For Duchenne Muscular Dystrophy

Pediatric Research ◽

10.1203/00006450-198708000-00053 ◽

1987 ◽

Vol 22 (2) ◽

pp. 222-222

Author(s):

T Voit ◽

C A Sewry ◽

M J Dunn ◽

V Dubowitz

Keyword(s):

Skeletal Muscle ◽

Duchenne Muscular Dystrophy ◽

High Risk ◽

Muscular Dystrophy ◽

Ricinus Communis

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Gene Correction of a Duchenne Muscular Dystrophy Mutation by Meganuclease-Enhanced Exon Knock-In

Human Gene Therapy ◽

10.1089/hum.2013.081 ◽

2013 ◽

Vol 24 (7) ◽

pp. 692-701 ◽

Cited By ~ 50

Author(s):

Linda Popplewell ◽

Taeyoung Koo ◽

Xavier Leclerc ◽

Aymeric Duclert ◽

Kamel Mamchaoui ◽

...

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Gene Correction

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In vivo non-invasive monitoring of dystrophin correction in a new Duchenne muscular dystrophy reporter mouse

Nature Communications ◽

10.1038/s41467-019-12335-x ◽

2019 ◽

Vol 10 (1) ◽

Cited By ~ 6

Author(s):

Leonela Amoasii ◽

Hui Li ◽

Yu Zhang ◽

Yi-Li Min ◽

Efrain Sanchez-Ortiz ◽

...

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Genetic Disorder ◽

Dystrophin Gene ◽

Luciferase Reporter ◽

Luciferase Expression ◽

Gene Correction ◽

Reading Frame ◽

Non Invasive

Abstract Duchenne muscular dystrophy (DMD) is a fatal genetic disorder caused by mutations in the dystrophin gene. To enable the non-invasive analysis of DMD gene correction strategies in vivo, we introduced a luciferase reporter in-frame with the C-terminus of the dystrophin gene in mice. Expression of this reporter mimics endogenous dystrophin expression and DMD mutations that disrupt the dystrophin open reading frame extinguish luciferase expression. We evaluated the correction of the dystrophin reading frame coupled to luciferase in mice lacking exon 50, a common mutational hotspot, after delivery of CRISPR/Cas9 gene editing machinery with adeno-associated virus. Bioluminescence monitoring revealed efficient and rapid restoration of dystrophin protein expression in affected skeletal muscles and the heart. Our results provide a sensitive non-invasive means of monitoring dystrophin correction in mouse models of DMD and offer a platform for testing different strategies for amelioration of DMD pathogenesis.

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Preoperative inspiratory muscle training for patients with severe scoliosis and high-risk pulmonary dysfunction in duchenne muscular dystrophy

European Journal of Orthopaedic Surgery & Traumatology ◽

10.1007/s00590-009-0500-4 ◽

2009 ◽

Vol 20 (2) ◽

pp. 113-121

Author(s):

Masashi Takaso ◽

Toshiyuki Nakazawa ◽

Takayuki Imura ◽

Kensuke Fukushima ◽

Wataru Saito ◽

...

Keyword(s):

Duchenne Muscular Dystrophy ◽

High Risk ◽

Muscular Dystrophy ◽

Inspiratory Muscle ◽

Inspiratory Muscle Training ◽

Pulmonary Dysfunction ◽

Muscle Training ◽

Severe Scoliosis

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Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy

Neuromuscular Disorders ◽

10.1016/j.nmd.2016.05.008 ◽

2016 ◽

Vol 26 (8) ◽

pp. 473-480 ◽

Cited By ~ 35

Author(s):

Craig M. McDonald ◽

Thomas Meier ◽

Thomas Voit ◽

Ulrike Schara ◽

Chiara S.M. Straathof ◽

...

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Respiratory Complications

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29 Multi-disciplinary palliative care for men living with duchenne: a qualitative interview study

BMJ Supportive & Palliative Care ◽

10.1136/bmjspcare-2018-mariecurie.29 ◽

2018 ◽

Vol 8 (3) ◽

pp. 370.3-371

Author(s):

Sheonad Laidlaw ◽

Emma Carduff

Keyword(s):

Health Care ◽

Palliative Care ◽

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Health Care Professionals ◽

Team Approach ◽

List Type ◽

Illness Trajectory ◽

Diagnosis And Management ◽

Qualitative Interview Study

BackgroundDuchenne muscular dystrophy (DMD) is an x-linked ultra-rare neuromuscular condition affecting 1 in 3600–6000 live male births.1 Individuals live with an exceptional illness trajectory of prolonged dwindling frailty and high symptom burden.2 While it is recognised that a co-ordinated multidisciplinary team approach may increase the survival of those with DMD and improve their quality of life (QoL)3 adults are receiving less comprehensive and co-ordinated care compared with those in the paediatric service.4AimTo investigate QoL in adults with DMD living in the West of Scotland (WoS).MethodsThe SEIQoL-DW tool was used to assess the five most important elements that contribute to an individual’s QoL – these were then used to guide qualitative interviews with six men in the WoS. A thematic analysis was undertaken.ResultsMen living with DMD in the WoS described living good lives but feel ‘forgotten’ due to perceived gaps in their care: poorly co-ordinated and infrequent health care; lack of multi-disciplinary team input and holistic care; and poor or no access to allied health care professionals for example physiotherapy and psychological support.ConclusionsExisting guidelines rarely seem materialise as person-centred care. There are numerous opportunities to introduce palliative care gently as part of the MDT early in the illness trajectory and continue in a dynamic manner as time elapses and when trigger points arise. Better co-ordinated multi-disciplinary care with the inclusion of a palliative care specialist may be a solution allowing for an early introduction to palliative care and proactive advance care planning.References. Bushby K, et al. Diagnosis and management of duchenne muscular dystrophy part 1: Diagnosis and pharmacological and psychosocial managment. Lancet Neurol2010;9:77–93.. Landfeldt E, et al. The burden of duchenne muscular dystrophy. Neurology2014;83:529–36.. Bushby K, et al. Diagnosis and management of duchenne muscular dystrophy part 2: Implementation of multidisciplinary care. Lancet Neurol2010;9:177–89.. Rodger S, et al. Adult care for duchenne muscular dystrophy in the UK. J Neuro2015;262:629–41.

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