Neurology care, diagnostics, and emerging therapies of the patient with Duchenne muscular dystrophy

Fawn Leigh, Alessandra Ferlini, Doug Biggar, Katharine Bushby, Richard Finkel, Lauren P. Morgenroth, Kathryn Rae Wagner

Research output: Contribution to journalArticle

Abstract

Duchenne muscular dystrophy is the most common form of childhood muscular dystrophy. A mutation in the DMD gene disrupts dystrophin (protein) production, causing damage to muscle integrity, weakness, loss of ambulation, and cardiopulmonary compromise by the second decade of life. Life expectancy has improved from mid-teenage years to mid- 20s with the use of glucocorticoids and beyond the third decade with ventilator support and multidisciplinary care. However, Duchenne muscular dystrophy is associated with comorbidities and is a fatal disease. Glucocorticoids prolong ambulation, but their side effects are significant. Emerging investigational therapies have surfaced over the past decade and have rapidly been tested in clinical trials. Gene-specific strategies include nonsense readthrough, exon skipping, gene editing, utrophin modulation, and gene replacement. Other mechanisms include muscle regeneration, antioxidants, and antifibrosis and anti-inflammatory pathways. With potential therapies emerging, early diagnosis is needed to initiate treatment early enough to minimize morbidity and mortality. Newborn screening can be used to significantly improve early diagnosis, especially for gene-specific therapeutics.

Original languageEnglish (US)
Pages (from-to)S5-S16
JournalPediatrics
Volume142
DOIs
StatePublished - Oct 1 2018

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Duchenne Muscular Dystrophy
Neurology
Glucocorticoids
Genes
Walking
Early Diagnosis
Utrophin
Dystrophin
Investigational Therapies
Muscular Dystrophies
Muscle Weakness
Mechanical Ventilators
Therapeutics
Life Expectancy
Comorbidity
Regeneration
Exons
Anti-Inflammatory Agents
Antioxidants
Clinical Trials

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Neurology care, diagnostics, and emerging therapies of the patient with Duchenne muscular dystrophy. / Leigh, Fawn; Ferlini, Alessandra; Biggar, Doug; Bushby, Katharine; Finkel, Richard; Morgenroth, Lauren P.; Wagner, Kathryn Rae.

In: Pediatrics, Vol. 142, 01.10.2018, p. S5-S16.

Research output: Contribution to journalArticle

Leigh, Fawn ; Ferlini, Alessandra ; Biggar, Doug ; Bushby, Katharine ; Finkel, Richard ; Morgenroth, Lauren P. ; Wagner, Kathryn Rae. / Neurology care, diagnostics, and emerging therapies of the patient with Duchenne muscular dystrophy. In: Pediatrics. 2018 ; Vol. 142. pp. S5-S16.
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