Duchenne muscular dystrophy in two siblings identified through the family adoption programme: a community-based case report from rural Punjab

Abstract

Duchenne muscular dystrophy (DMD) is a progressive X-linked disorder that is often recognised late in low-income rural settings. We report two brothers with DMD from a household in rural Ludhiana district, Punjab, encountered through the Family Adoption Programme (FAP), a longitudinal community attachment under the competency-based undergraduate curriculum. The younger brother had been genetically confirmed (hemizygous DMD c.5769delA, likely pathogenic) at a tertiary Centre of Excellence but his rehabilitation had lapsed; the elder brother, wheelchair-dependent since age eight, had never been evaluated because of cost. During a routine FAP home visit, his undiagnosed weakness was recognised, and both siblings were re-linked to structured rehabilitation. We use the household to examine what continuous family-level contact added to established neuromuscular care and where gaps in confirmatory testing, disease-specific therapy and linkage to the National Policy for Rare Diseases persisted. The report is offered as an implementation example, not a novel model of care.