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Systemic Treatment of Body-Wide Duchenne Muscular Dystrophy Symptoms.

Patryk Konieczny
Published in: Clinical pharmacology and therapeutics (2024)
Duchenne muscular dystrophy (DMD) is a fatal X-linked disease that leads to premature death due to the loss of dystrophin. Current strategies predominantly focus on the therapeutic treatment of affected skeletal muscle tissue. However, certain results point to the fact that with successful treatment of skeletal muscle, DMD-exposed latent phenotypes in tissues, such as cardiac and smooth muscle, might lead to adverse effects and even death. Likewise, it is now clear that the absence of dystrophin affects the function of the nervous system, and that this phenotype is more pronounced when shorter dystrophins are absent, in addition to the full-length dystrophin that is present predominantly in the muscle. Here, I focus on the systemic aspects of DMD, highlighting the ubiquitous expression of the dystrophin gene in human tissues. Furthermore, I describe therapeutic strategies that have been tested in the clinic and point to unresolved questions regarding the function of distinct dystrophin isoforms, and the possibility of current therapeutic strategies to tackle phenotypes that relate to their absence.
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