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