Duchenne Muscular Dystrophy (DMD) is a severe X-linked recessive disorder characterized by progressive muscle degeneration due to dystrophin deficiency. Cardiac involvement, particularly dilated cardiomyopathy, significantly impacts morbidity and mortality, typically manifesting after age 10. This case report presents a rare instance of early-onset cardiac involvement in a 3-year-old male with a confirmed deletion in exon 55 of the dystrophin gene. The patient developed dilated cardiomyopathy at 3 years and 8 months, with progressive left ventricular dysfunction despite early treatment with corticosteroids, ACE inhibitors, and beta-blockers. Genetic mechanisms and genotype–phenotype correlations related to cardiac involvement were reviewed, highlighting emerging therapies such as exon skipping, vamorolone, ifetroban, and rimeporide. Studies indicate that variants in exons 12, 14–17, 31–42, 45, and 48–49 are associated with more severe cardiac impairment. This case emphasizes the need for early, ongoing cardiac assessment and personalized treatment to address disease heterogeneity. While current DMD care standards improve survival, optimizing management through early intervention and novel therapies remains essential. Further research is needed to better understand genotype–phenotype correlations and improve cardiac outcomes for patients with DMD.

Progress in the field of muscular dystrophy (MD) using a multidisciplinary approach based on international standards of care has led to a significant increase in the life expectancy of patients. The challenge of transitioning from pediatric to adult healthcare has been acknowledged for over a decade, yet it continues to be a last-minute concern. Currently, there is no established consensus on how to evaluate the effectiveness of the transition process. Our study aimed to identify how well patients are prepared for the transition and to determine their needs. We conducted a descriptive, cross-sectional study on 15 patients aged 14 to 21 years. The patients completed a sociodemographic and a Transition Readiness Assessment Questionnaire (TRAQ). We also analyzed the comorbidities of these patients. Our study revealed that only 46.7% of the patients had engaged in a conversation with a medical professional, namely, a child neurologist, about transitioning. A total of 60% of the participants expressed having confidence in their self-care ability. However, the median TRAQ score of 3.6 shows that these patients overestimate themselves. We emphasize the necessity for a slow, personalized transition led by a multidisciplinary team to ensure the continuity of state-of-the-art care from pediatric to adult healthcare services and the achievement of the highest possible quality of life for these patients.

Background: The transition from pediatric to adult care in Duchenne Muscular Dystrophy (DMD) is challenging due to the disease’s complexity and the need for lifelong, comprehensive management. In Romania, ongoing efforts aim to enhance multidisciplinary collaboration, though systemic barriers, such as fragmented healthcare services, persist. Nonsense mutations, including those in exon 30 described here, are often associated with more severe disease progression. Methods: We present the case of a 17-year-old Romanian DMD patient with a nonsense mutation in exon 30 of the dystrophin gene. The patient received multidisciplinary pediatric care addressing his medical needs, including neuromuscular, respiratory, cardiac, and orthopedic management. Transition readiness was assessed using the Transition Readiness Assessment Questionnaire (TRAQ), and the patient’s perspective on the process was documented. Results: Care followed international standards, but the disease progressed predictably, with gradual loss of ambulation, respiratory decline, and cardiac complications. The TRAQ revealed strengths in communication with healthcare providers but moderate confidence in self-management tasks. From the patient’s perspective, fragmented adult services and difficulty accessing specialized neuromuscular support remain major obstacles, underscoring the importance of early, structured transition planning and patient-centered approaches. Conclusions: Transitioning to adult services requires strong communication between pediatric and adult teams and integration of specialized care. Tailored follow-up plans ensure continuity of care and effective disease management. This case reflects broader needs in similar healthcare contexts, highlighting the necessity of robust transition frameworks to respond to patient-specific challenges and ultimately support long-term quality of life.

Duchenne muscular dystrophy (DMD) is a genetic neuromuscular disorder with X-linked inheritance, characterised by progressive motor deficit, causing loss of the ability to walk and multisystemic complications. Currently, there is no known aetiologic treatment for DMD which seeks to remove or correct its cause. Progressive respiratory muscle damage associates thoracic deformities, and ineffective cough, which leads to significant complications such as hypoventilation, nocturnal desaturation and chronic respiratory failure. Respiratory impairment represents the major cause of mortality in patients with muscular dystrophy. This highlights the importance of early and correct management of this illness. We present the case of a 17-year-old patient, genetically diagnosed with DMD at the age of 5 years that became non-ambulant at the age of 12. He had complications such as iatrogenic Cushing syndrome, anxiety, depressive disorder, mild cardiac dysfunction, severe restrictive respiratory dysfunction, nocturnal hypercapnia and sleep apnoea syndrome treated with BiLevel Positive Airway Pressure Spontaneous/Timed Therapy (BiPAP-ST). In evolution, it was decided to perform a tracheostomy and quasi-permanent ventilation. The clinical and paraclinical presentation of this patient is typical of that of an advanced stage of DMD, with progressive aggravation in the past years, despite the correct multidisciplinary management, following the international care standard of