Duchenne and Becker muscular dystrophies: an Estonian experience

Talkop, Ulvi Astra; Klaassen, T.; Piirsoo, Andres; Sander, Valentin; Napa, Aita; Essenson, Ene; Tammur, Jaana; Talvik, Tiina

doi:10.1016/s0387-7604(99)00016-9

Cited by 5 publications

(8 citation statements)

References 12 publications

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“…Twenty‐four studies reported age at LOA 9,10,12,13,36‐55 . Data estimating the mean age at LOA were presented in 20 studies (Figure 4A), 10,36‐38,40‐55 and median age in 18 studies (Figure S1). 10,36,38,40‐49,51‐55 These parameters were calculated from patients who had all experienced LOA.…”

Section: Resultsmentioning

confidence: 99%

“…Data estimating the mean age at LOA were presented in 20 studies (Figure 4A), 10,36‐38,40‐55 and median age in 18 studies (Figure S1). 10,36,38,40‐49,51‐55 These parameters were calculated from patients who had all experienced LOA. Estimates of mean (95% confidence interval) age at LOA ranged from 9.1 (8.7‐9.6) years among 90 patients amenable to skipping exon 53, 10,36,37,40,42,49,50,53‐55 to 11.5 (9.5‐13.5) years among three patients amenable to skipping exon 8 41,53 .…”

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

“…9,10,12,13,[36][37][38][39][40][41][42][43][44][45][46][47][48][49][50][51][52][53][54][55] Data estimating the mean age at LOA were presented in 20 studies (Figure 4A), 10,[36][37][38][40][41][42][43][44][45][46][47][48][49][50][51][52][53][54][55] and median age in 18 studies (Figure S1). 10,36,38,[40][41][42][4...…”

Section: Ambulatory Functionmentioning

confidence: 99%

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

Szabo¹,

Gooch

Mickle³

et al. 2021

Muscle and Nerve

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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.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Ambulatory Functionmentioning

confidence: 99%

See 2 more Smart Citations

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

Szabo¹,

Gooch

Mickle³

et al. 2021

Muscle and Nerve

View full text Add to dashboard Cite

show abstract

“…For example, in-frame deletions starting or ending around exon 50 or 51 that encode the hinge region were most commonly associated with severe phenotypes (Figure 2) (eg, deletions at exons 47-51, 48-51, and 49-53 are all reported to be associated with a severe DMD phenotype rather than BMD). 15,16 Two questions arise. First, why do specific patterns of in-frame mutations tend to result in a severe DMD phenotype in contradiction to the reading frame rule?…”

Section: Certain Exon Deletions May Retain More Dystrophin Function Than Othersmentioning

confidence: 99%