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

Authors

  • Syed Muhammad Ali Haider HITEC Institute of Medical Sciences Taxila Cantt, Taxila.
  • Tehniat Bashir HITEC Institute of Medical Sciences Taxila Cantt, Taxila.
  • Qurat-ul-Ain HITEC Institute of Medical Sciences Taxila Cantt Taxila,
  • Wahid Ali HITEC Institute of Medical Sciences Taxila Cantt Taxila.
  • Somayya Siddiqa HITEC Institute of Medical Sciences Taxila Cantt Taxila.
  • Saad Farrukh Malik HITEC Institute of Medical Sciences Taxila Cantt, Taxila.

DOI:

https://doi.org/10.29309/TPMJ/2022.29.12.7081

Keywords:

Consanguineous Marriages, Consanguinity, Neuronal Apoptosis Inhibitory Proteins, SMN 1, SMA

Abstract

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.

Author Biographies

Syed Muhammad Ali Haider, HITEC Institute of Medical Sciences Taxila Cantt, Taxila.

MBBS, Final Year Medical Student, 

Tehniat Bashir, HITEC Institute of Medical Sciences Taxila Cantt, Taxila.

MBBS, Final Year Medical Student, 

Qurat-ul-Ain, HITEC Institute of Medical Sciences Taxila Cantt Taxila,

MBBS, FCPS, Senior Registrar Pediatric, 

Wahid Ali, HITEC Institute of Medical Sciences Taxila Cantt Taxila.

MBBS, FCPS, Assistant Professor Pediatric, 

Somayya Siddiqa, HITEC Institute of Medical Sciences Taxila Cantt Taxila.

MBBS, DCH, FCPS, Assistant Professor Pediatric, 

Saad Farrukh Malik, HITEC Institute of Medical Sciences Taxila Cantt, Taxila.

MBBS, Final Year Medical Student, 

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Published

2022-12-01