Short stature and pubertal delay in Duchenne muscular dystrophy

Wood, Claire; Straub, Volker; Guglieri, Michela; Bushby, Kate; Cheetham, Tim

doi:10.1136/archdischild-2015-308654

Cited by 65 publications

(68 citation statements)

References 55 publications

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“…The goals of endocrine care are to monitor growth and development, identify and diagnose hormone deficiencies, provide endocrine hormone replacement therapy when indicated, and prevent a life-threatening adrenal crisis. A few relevant expert-opinion papers and reviews have been published, 94–96 but data are scarce on the safety and efficacy of growth hormone and testosterone therapy in individuals with DMD. The care considerations that follow are based on evidence and experience derived from use of these therapies in other diseases, with modifications for use in DMD (figure 4).…”

Section: Endocrine Managementmentioning

confidence: 99%

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

Birnkrant

Bushby

Bann

et al. 2018

The Lancet Neurology

878

1,080

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Since the publication of the Duchenne muscular dystrophy (DMD) care considerations in 2010, multidisciplinary care of this severe, progressive neuromuscular disease has evolved. In conjunction with improved patient survival, a shift to more anticipatory diagnostic and therapeutic strategies has occurred, with a renewed focus on patient quality of life. In 2014, a steering committee of experts from a wide range of disciplines was established to update the 2010 DMD care considerations, with the goal of improving patient care. The new care considerations aim to address the needs of patients with prolonged survival, to provide guidance on advances in assessments and interventions, and to consider the implications of emerging genetic and molecular therapies for DMD. The committee identified 11 topics to be included in the update, eight of which were addressed in the original care considerations. The three new topics are primary care and emergency management, endocrine management, and transitions of care across the lifespan. In part 1 of this three-part update, we present care considerations for diagnosis of DMD and neuromuscular, rehabilitation, endocrine (growth, puberty, and adrenal insufficiency), and gastrointestinal (including nutrition and dysphagia) management.

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Section: Endocrine Managementmentioning

confidence: 99%

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

Birnkrant

Bushby

Bann

et al. 2018

The Lancet Neurology

878

1,080

View full text Add to dashboard Cite

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“…F ). Interlukin‐6 ( IL‐6 ), a pro‐inflammatory cytokine reported to be increased in DMD and mdx serum, was not increased in mdx muscle; however, it was significantly suppressed by all treatments (Fig. G ).…”

Section: Resultsmentioning

confidence: 99%

Growth Hormone Increases Bone Toughness and Decreases Muscle Inflammation in Glucocorticoid-Treated Mdx Mice, Model of Duchenne Muscular Dystrophy

Yoon

Grynpas

Mitchell

2019

Journal of Bone and Mineral Research

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The absence of functional dystrophin with mutations of the dystrophin‐encoding gene in Duchenne muscular dystrophy (DMD) results in muscle inflammation and degeneration, as well as bone fragility. Long‐term glucocorticoid therapy delays the muscular disease progression but suppresses growth hormone secretion, resulting in short stature and further deleterious effects on bone strength. This study evaluated the therapeutic potential of daily growth hormone therapy in growing mdx mice as a model of DMD. Growth hormone treatment on its own or in combination with glucocorticoids significantly improved muscle histology and function and decreased markers of inflammation in mdx mice. Glucocorticoid treatment thinned cortical bone and decreased bone strength and toughness. Despite the minimal effects of growth hormone on bone microarchitecture, it significantly improved biomechanical properties of femurs and vertebrae, even in the presence of glucocorticoid treatment. Together these studies suggest that the use of growth hormone in DMD should be considered for improvements to muscle and bone health. © 2019 American Society for Bone and Mineral Research.

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“…A critical contributor to bone accrual is sex steroid, as bone mass increases by approximately 30-50% during pubertal development [10]. In chronic disease, pubertal development and growth are often impaired, making this a significant contributor to poor bone accrual and linear growth as sex steroids lead to a surge of GH during puberty [11,12]. …”

Section: Pathophysiology Of Secondary Osteoporosismentioning

confidence: 99%

Skeletal Fragility in Children with Chronic Disease

2016

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Skeletal fragility associated with underlying childhood chronic disease is a systemic disorder of poor bone growth and reduction in bone turnover which can lead to abnormal bone mass, geometry and microarchitecture. Due to the growth potential unique to children, remarkable bone recovery following a transient threat to the bone can occur if there is concurrent growth. Addressing bone health in these children should focus on improvement in growth, puberty and removing the primary insult. In conditions where there is a little scope for bone recovery and limited residual growth, bone-targeted therapy may need to be considered, even though there is currently limited evidence. The importance of early detection of signs of bone fragility, by active screening for vertebral fracture using newer imaging techniques such as dual-energy X-ray absorptiometry lateral vertebral morphometry, may now be possible. There is currently, a paucity of evidence to support prophylactic use of anti-resorptive therapy. Where poor growth and low bone turnover are seen, the use of growth-promoting therapies and anabolic bone-protective agents may be more physiological and should be evaluated in well-designed trials. Collaborative studies on long-term fracture outcome and well-designed trials of bone-protective therapies are needed and to be encouraged.

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Short stature and pubertal delay in Duchenne muscular dystrophy

Cited by 65 publications

References 55 publications

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

Growth Hormone Increases Bone Toughness and Decreases Muscle Inflammation in Glucocorticoid-Treated Mdx Mice, Model of Duchenne Muscular Dystrophy

Skeletal Fragility in Children with Chronic Disease

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