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Steadily improving management of Duchenne muscular dystrophy (DMD) continues to lead to improved physical and functional status, allowing increasingly successful transitions to independence and self-actualization in adulthood.
- Laura E. Case, Susan D. Apkon, Michelle Eagle, Ann Gulyas, Laura Juel, Dennis Matthews, Robbin A. Ne...
- 2018
1 de out. de 2018 · Steadily improving management of Duchenne muscular dystrophy (DMD) continues to lead to improved physical and functional status, allowing increasingly successful transitions to independence and...
1 de out. de 2018 · This case report provides insights into the physiotherapy management of a 12-year-old male with Duchenne muscular dystrophy, highlighting the urgency for advanced treatments to combat this debilitating disease.
- Introduction
- Methods
- Diagnosis
- Steroid Therapy
- Rehabilitation
- Systemic Care
- New Perspectives
In the last few decades, there have been considerable improvements in the diagnosis and care of Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy. International guidelines have published and recently reviewed recently.11 Bushby K, Finkel R, Birnkrant DJ, et al; DMD Care Considerations Working Group. Diagnosis and manag...
The present working group was composed of members of the Neuromuscular Disorders Department of the Brazilian Academy of Neurology who were invited and accepted the work timeline, and medical doctors and physical therapists currently involved in DMD care and/or research. We performed a search for articles published in last five years on PubMed with ...
Performing an accurate diagnosis is the starting point for the standard of care for DMD. Diagnostic confirmation enables the performance of proper interventions and provides educational and support information and adequate genetic counseling to empower families. The investigation will often start with clinical suspicion by pediatricians, general pr...
Corticosteroids (CSs) have been the mainstay of pharmacological treatment in DMD patients.1919 McDonald CM, Henricson EK, Abresch RT, et al; CINRG Investigators. Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study. Lancet 2018;391(10119):451-461. Do...
Have new publications better defined inspiratory and expiratory muscle training?
The theoretical rationale for respiratory muscle training in patients with neuromuscular diseases is that it can improve muscle strength and endurance. Strengthening the inspiratory muscles, directly or indirectly, through the training of the expiratory muscles could, a priori, delay the need for ventilatory support, among other outcomes. However, the benefit of respiratory-muscle training in patients with DMD is still controversial. A recent meta-analysis3030 Williamson E, Pederson N, Rawson...
Respiratory assessments: When and how often Are They performed?
See systemic care.
Motor assessments: When and how often Are They performed?
The assessments with motor scales should be performed every six months, and, with some exceptions, every four months (level of evidence: 5; class of recommendation: D; expert opinion: 50% strongly agree; 43.8% agree).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):2...
The most recent advances on this topic described are as follows.5252 Janson CM, Tan RB, Iyer VR, Vogel RL, Vetter VL, Shah MJ. Ivabradine for treatment of tachyarrhythmias in children and young adults. HeartRhythm Case Rep 2019;5(06):333-337. Doi: 10.1016/j.hrcr.2019.03.007 https://doi.org/10.1016/j.hrcr.2019.03.0... 53 Papa AA, D’Ambrosio P, Petil...
In our previous paper, Araujo et al.33 Araujo APQC, Carvalho AAS, Cavalcanti EBU, et al. Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives. Arq Neuropsiquiatr 2017;75 (08):104-113. Doi: 10.1590/0004-282x20170112 https://doi.org/10.1590/0004-282x2017011... listed the promising therapies in clinic...
Rehabilitation principles remain key to overall management for individuals with DMD with increasing options for ever more successful management, reflecting a changing natural history based on the use of glucocorticoids, more consistent comprehensive care, and the emergence of disease-modifying treatments.
11 de jan. de 2020 · This paper reviews the enhanced therapeutic effects of rehabilitation and regenerative medicine toward Duchenne muscular dystrophy. Duchenne muscular dystrophy (DMD) is one of the most severe forms of muscle disorders.
In part 1 of this Review, we cover the following topics: diagnosis, neuromuscular management, rehabilitation management, endocrine management (including growth, puberty, and adrenal insufficiency), and gastrointestinal management (including nutrition and dysphagia).
