Patterns of inheritance and diagnostic features of spinal muscular atrophy, in areas with high rates of consanguineous marriages.

Objective: To explore the diagnostic features and inheritance patterns of spinal muscular atrophy (SMA) in children at three tertiary care public hospitals. Study Design: Retrospective study. Setting: HITEC Institute Medical Sciences Taxila Cantt. Period: January 2022 to March 2022. Material & Methods: A retrospective review medical records past ten years from 2011 December 2020 hospitals was conducted. Socio-demographic characteristics, consanguinity, (including genetic investigation) were also considered. Results: total 70 diagnosed with SMA during research study period most prevalent variation found among them Werdnig Hoffmanver illness (SMA type I), affecting 40-57 percent children. The that 67 group showed a high level paternal consanguinity. deletion gene, survival motor neuron (SMN1) discovered 21 (88%) genetically tested out 24, while 17 (71%) studied patients be positive for specific apoptotic proteins called neuronal apoptosis inhibitory (NAIP). Conclusion: In our study, 1 is prevalent. This piece literature emphasizes importance antenatal detection need increase awareness high-risk societies consanguineous marriages like Pakistan lessen disease load.