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Journal Review: The impact of genotype on outcomes in individuals with Duchenne muscular dystrophy: A systematic review
Journal Review: 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 identi-fied that describe the clinical course of DMD, with pathogenic variants cate-gorizable by exon skip or stop-codon readthrough amenability and outcomes presented by age. Outcomes described included those related to ambulatory, car-diac, 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 impor-tant 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.

1)Understand the categories and specific items that constitute the key needs for persons with ALS in order to deliver care that addresses these needs;
2) be able to develop team-based care that addresses gaps in meeting these needs;
3)have sufficient information about these needs to collaborate with advocacy and policy-making groups to address them.  

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The AANEM designates this enduring material for a maximum of 1 AMA PRA Category 1 Credits TM.  Physicians should claim only the credit commensurate with the extent of their participation in the activity. Credit expires 03/10/2025.

S.M.S. and A.T.M. are employees of Broadstreet HEOR, which received funds from Sarepta for this work. K.L.G. is currently employed by Sarepta. R.M.S. was employed by Sarepta at the time of this work. A.M.C. has served on advisory boards for Sarepta, Avexis, Genentech-Roche, and NS-Pharma, and serves on the data manage-ment safety board for Catabasis.

Shelagh M. Szabo MSc1 | Katherine L. Gooch PhD2 | Alexis T. Mickle MSc1 |Renna M. Salhany PharmD2 | Anne M. Connolly MD3
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