Neurology Care, Diagnostics, and Emerging Therapies of the Patient With Duchenne Muscular Dystrophy

Duchenne muscular dystrophy is the most common form of childhood muscular dystrophy. A mutation in the 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 imp...

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Bibliographic Details
Published in:Pediatrics (Evanston) 2018-10, Vol.142 (Suppl 2), p.S5-S16
Main Authors: Leigh, Fawn, Ferlini, Alessandra, Biggar, Doug, Bushby, Katharine, Finkel, Richard, Morgenroth, Lauren P, Wagner, Kathryn R
Format: Article
Language:English
Subjects:
Antioxidants
Children
Clinical trials
Diagnosis
Duchenne's muscular dystrophy
Dystrophin
Dystrophy
Exon skipping
Genetic modification
Genome editing
Glucocorticoids
Inflammation
Life span
Morbidity
Muscles
Muscular dystrophy
Mutation
Neurology
Pediatrics
Regeneration
Side effects
Utrophin
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Summary:Duchenne muscular dystrophy is the most common form of childhood muscular dystrophy. A mutation in the 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.
ISSN:0031-4005
1098-4275
DOI:10.1542/peds.2018-0333C