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16 | InTouch AUTUMN 2025 they become problematic. Surgical correction may be considered if a fracture occurs in a long bone, such as in an arm or leg. Pulmonary Management: Usually boys do not have trouble breathing or coughing while they are still walking. Because the breathing muscles can weaken as boys with DMD get older, they are at risk of chest infections, often due to an ineffective cough. Later on, they may develop problems with their breathing when sleeping and require a breathing device (eg, BI-PAP machine). When they are older, they may require help with breathing during the day as well. As this is a staged progression of problems, a planned and proactive approach to respiratory care is possible based around appropriate surveillance, prophylaxis, and interventions. The care teammay include a pulmonary doctor and respiratory therapist with skill in looking after the delivery of non- invasive ventilation and manual and mechanically assisted cough. Cardiac Management: The goal of cardiac management in Duchenne Muscular Dystrophy (DMD) is to detect and treat the deterioration of heart muscle function early. Cardiomyopathy or rhythm abnormalities like palpitations are commonly associated with the disease’s progression. Since these heart problems can develop without noticeable symptoms, it is crucial to monitor them closely to ensure timely treatment. Key aspects of effective cardiac management include regular surveillance and proactive intervention. It is essential to have a cardiologist as part of the care team to oversee these efforts. Gastrointestinal Management: Attention to nutrition, swallowing, bowel health, and other gastrointestinal issues are important in the care of people living with DMD. Access to the following experts may be needed at different stages: a dietician or nutritionist, a swallowing/speech and language therapist, and a gastroenterologist. Psychosocial Management: People with DMD may have an increased risk of psychosocial difficulties, such as problems with behaviour and learning, and medical care is not complete without support for psychosocial wellbeing. Difficulties in social functioning may be due to specific challenges in particular skills, such as getting on with others, judging social situations, and perspectives, while the consequences of DMD (such as physical limitations) may result in social isolation, social withdrawal, and reduced access to social activities. For many parents, the stress caused by the psychosocial problems of the child and difficulties in getting them recognised and properly treated exceeds the stress associated with the physical aspects of the disease. Ongoing Research and the Future of DMD Treatment There have been several promising developments in the treatment of Duchenne Muscular Dystrophy. Here is a summary of key updates in drug development: • Exon Skipping Therapies: These therapies aim to skip over faulty parts of the dystrophin gene to produce a shorter but functional version of the dystrophin protein. Drugs like eteplirsen (Exondys 51), golodirsen (Vyondys 53), and viltolarsen (Viltepso) have been designed for specific mutations in the dystrophin gene. • Gene Replacement Therapy: Micro-dystrophin gene delivery for DMD involves using a viral vector, most commonly adeno-associated virus (AAV), to deliver a shortened version of the dystrophin gene (“micro- dystrophin”) into muscle cells, aiming to partially restore the missing dystrophin protein and slow disease progression by providing a functional, albeit smaller, version that can fit within the AAV’s limited packaging capacity. • Stop Codon Read-Through: In about 13% of patients, DMD is caused by a nonsense mutation in the dystrophin gene that causes a premature stop of translation, resulting in production of a non-functioning dystrophin protein. Ataluren (Translarna) is designed to allow cells to read through premature stop codons in the dystrophin gene, enabling the production of a functional dystrophin Continued from previous page. DUCHENNE MUSCULAR DYSTROPHY (DMD) As muscles weaken and joints become harder to move, there’s a risk of them getting stuck in one position, known as contracture.