The impact of genotype on outcomes in individuals with Duchenne muscular dystrophy: A systematic review

Duchenne muscular dystrophy (DMD) is associated with progressive muscle weakness, loss of ambulation (LOA), and early mortality. In this review we have synthesized published data on the clinical course of DMD by genotype. Using a systematic search implemented in Medline and Embase, 53 articles were...

Full description

Saved in:
Bibliographic Details
Published in:Muscle & nerve 2022-03, Vol.65 (3), p.266-277
Main Authors: Szabo, Shelagh M., Gooch, Katherine L., Mickle, Alexis T., Salhany, Renna M., Connolly, Anne M.
Format: Article
Language:English
Subjects:
Age
Antisense oligonucleotides
Child
Cognitive ability
Confidence intervals
Corticoids
Corticosteroids
Duchenne muscular dystrophy
Duchenne's muscular dystrophy
Dystrophin - genetics
Dystrophy
exon skipping
Genotype
Genotype & phenotype
Genotypes
Heart
Humans
Muscles
Muscular dystrophy
Muscular Dystrophy, Duchenne
natural history
Oligonucleotides
pathogenic variants
Patients
Stroke Volume
Systematic review
Ventricle
Ventricular Function, Left
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Duchenne muscular dystrophy (DMD) is associated with progressive muscle weakness, loss of ambulation (LOA), and early mortality. In this review we have synthesized published data on the clinical course of DMD by genotype. Using a systematic search implemented in Medline and Embase, 53 articles were identified that describe the clinical course of DMD, with pathogenic variants categorizable by exon skip or stop‐codon readthrough amenability and outcomes presented by age. Outcomes described included those related to ambulatory, cardiac, pulmonary, or cognitive function. Estimates of the mean (95% confidence interval) age at LOA ranged from 9.1 (8.7‐9.6) years among 90 patients amenable to skipping exon 53 to 11.5 (9.5‐13.5) years among three patients amenable to skipping exon 8. Although function worsened with age, the impact of genotype was less clear for other outcomes (eg, forced vital capacity and left ventricular ejection fraction). Understanding the distribution of pathogenic variants is important for studies in DMD, as this research suggests major differences in the natural history of disease. In addition, specific details of the use of key medications, including corticosteroids, antisense oligonucleotides, and cardiac medications, should be reported.
ISSN:0148-639X
1097-4598
DOI:10.1002/mus.27463