Longitudinal management in Duchenne muscular dystrophy with exon 63 duplication

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Duchenne muscular dystrophy (DMD) is a progressive genetic disorder.
• Exon 63 duplication is a specific genetic mutation associated with DMD.
• Intellectual disability, overweight, and dyslipidemia are common comorbidities in DMD.

Purpose of the Study:

• To describe a comprehensive multidisciplinary approach for managing a nonambulatory boy with Duchenne muscular dystrophy (DMD) and exon 63 duplication.
• To highlight the challenges and successes of care in resource-limited settings.
• To emphasize the importance of holistic care addressing medical and psychosocial factors.

Main Methods:

• Pharmacological interventions including prednisone medication.
• Non-pharmacological interventions: dietary modifications and psychological support.
• Involvement of family in peer groups and regular monitoring.

Main Results:

• Tailored care was provided despite socioeconomic constraints and limited access to advanced therapies.
• A multidisciplinary approach involving medication, diet, and psychological support was implemented.
• Family involvement and peer support were facilitated to enhance quality of life.

Conclusions:

• Holistic and accessible care is crucial for Duchenne muscular dystrophy (DMD) patients, especially in resource-limited environments.
• Addressing both medical and psychosocial aspects is essential for improving patient outcomes.
• Integrated care models can improve the quality of life for individuals with complex genetic conditions like DMD.