Duchenne muscular dystrophy (DMD) is a serious, progressive genetic disorder. It is caused by mutations in the DMD gene that result in the absence of dystrophin, an essential structural protein of the sarcolemma. This weakens the sarcolemmal membrane and makes it highly sensitive to mechanical stress.
The heart muscle suffers degenerative alterations similar to those seen in other muscles, and as the disease progresses, cardiac involvement increases and becomes a major cause of morbidity and mortality, with many patients developing dilated cardiomyopathy and arrhythmias. Early detection and proactive management of cardiac dysfunction are essential to optimise outcomes.
Although no cure has yet been found for this disease, significant progress has been made recently, opening up many avenues for further research.
In a recently published review of the literature, a researcher from the Institute summarises current and emerging therapeutic strategies that could improve patients’ lives. Some therapies aim to preserve cardiac function and delay the onset of heart failure. New therapeutic approaches, including gene and cell therapies as well as pharmacological strategies, are being developed with the aim of either restoring dystrophin function or compensating for its loss.
