This study presents findings characterizing the clinical and genetic profiles of patients with Duchenne Muscular Dystrophy (DMD) from Pakistan’s first national disease registry for Spinal Muscular Atrophy and Duchenne Muscular Dystrophy. The registry is critical to better understanding the epidemiology and standard of DMD patient care in Pakistan.

Duchenne muscular dystrophy is a progressive neuromuscular disorder with substantial disease burden and limited access to care in low- and middle-income countries. Despite Pakistan’s large population, no national data on genetically confirmed DMD cases has been available to date.

In this retrospective study, we enrolled 130 patients with genetically confirmed DMD through a nationwide telephonic survey. Multiplex ligation dependent probe amplification-based genetic testing was performed at the country’s sole certified molecular lab. Associations between clinical features, consanguinity, and mutation type were analyzed using chi-square testing.

The cohort was predominantly male (98.5%, n=128). Large dystrophin gene mutations were reported in 76.2% (n=99) cases. Single exon deletions of 44, 45, 51, and 52 were most frequent. The utilization of non-pharmacologic DMD therapies, such as scoliosis surgery, ventilation assistance, and physiotherapy, remains markedly low in Pakistan in comparison to more developed countries. Consanguineous parentage was significantly associated with calf muscle hypertrophy (p=0.0021), and family history was significantly associated with mutation type (p=0.044). None of our patients had access to advanced supportive or disease-modifying therapies.

Our findings highlight the prevalence of large deletions in the dystrophin gene and a potential link between consanguinity and disease severity. The lack of access to non-pharmacological therapies emphasizes the need for improved healthcare infrastructure in Pakistan. The creation of this registry marks a foundational step toward improving clinical care, expanding genetic screening, and advocating for novel therapies for Duchenne Muscular Dystrophy patients in Pakistan and other underserved regions.