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

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Duchenne muscular dystrophy (DMD) is a genetic disorder that primarily affects males and is characterized by progressive muscle weakness, loss of ambulation, and early mortality. This systematic review aimed to examine the impact of genotype on outcomes in individuals with DMD. The review identified 53 articles that described the clinical course of DMD by genotype. The outcomes assessed included ambulatory, cardiac, pulmonary, and cognitive function. The review found that the age at loss of ambulation (LOA) varied depending on the genotype, with patients amenable to skipping exon 44 having a milder phenotype and later LOA compared to patients with other variants. However, the impact of genotype on other outcomes, such as forced vital capacity and left ventricular ejection fraction, was less clear. The review highlighted the importance of understanding genotype-phenotype relationships for prognosis and emphasized the need for consistent reporting of key clinical factors, such as corticosteroid use and other disease-modifying treatments. Overall, the review showed that while the impact of genotype on LOA is well-described, more research is needed to fully understand the effects of genotype on other aspects of the disease.

Keywords

Duchenne muscular dystrophy

DMD

genetic disorder

muscle weakness

loss of ambulation

genotype

ambulatory function

cardiac function

pulmonary function

cognitive function

duchenne