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Last Posted: Aug 18, 2022
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Incidence of Duchenne muscular dystrophy in the modern era; an Australian study
D Kariyawasam et al, EJHG, June 27, 2022

A retrospective population-based cohort study of all genetically and/or histopathologically confirmed males with DMD, born in New South Wales and the Australian Capital Territory was undertaken from 2002–2012. Cases were identified using state-wide molecular laboratory and clinical databases. The annual disease incidence and “theoretically” preventable cases were extrapolated over the study period. Proband genotype/phenotype, pedigree analysis, carrier-risk and extent of cascade screening were also determined. The cumulative incidence of disease was 19.7 per 100,000 male live births and 1 in 5076 live born males were diagnosed with DMD.

Selected clinical and demographic factors and all-cause mortality among individuals with Duchenne muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking, and Research Network.
Paramsothy Pangaja et al. Neuromuscular disorders : NMD 2022 5

Among 526 individuals identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network, the estimated median survival time from birth was 23.7 years. Current glucocorticoid users had a lower hazard of mortality than non-users. Individuals who ever had scoliosis surgery had a lower hazard of mortality than individuals who did not have scoliosis surgery. Individuals who ever used cough assist had a lower hazard of mortality than individuals who never used cough assist. Non-Hispanic Black individuals had a higher hazard of mortality than non-Hispanic White individuals.

Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
Guglieri Michela et al. JAMA 2022 4

What is the difference in clinical outcomes among 3 corticosteroid regimens (0.75 mg/kg of daily prednisone, 0.90 mg/kg of daily deflazacort, or 0.75 mg/kg of intermittent prednisone for 10 days on and then 10 days off) as initial treatment for boys with Duchenne muscular dystrophy? This randomized clinical trial included 196 boys with Duchenne muscular dystrophy; the clinical outcome was a global outcome that incorporated a measure of rising from the floor, forced vital capacity, and global satisfaction with treatment assessed over 3 years. Daily prednisone and daily deflazacort resulted in significantly better outcomes compared with intermittent prednisone; there was no significant difference between the 2 daily regimens.

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