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Spinal muscular atrophy: clinical spectrum and genetic mutations in Pakistani children

Shahnaz Ibrahim1, Tariq Moatter, Ali Faisal Saleem

  • 1Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan. shahnaz.ibrahim@aku.edu

Neurology India
|July 25, 2012
PubMed

Insights

Spinal muscular atrophy (SMA) is common in Pakistan, with SMA type I being the most frequent. High rates of consanguinity and SMN1 gene deletions underscore the need for prenatal diagnosis to manage this neurodegenerative disorder.

Area of Science:

  • Pediatrics
  • Genetics
  • Neurology

Background:

  • High consanguinity rates in Pakistan increase the incidence of autosomal recessive disorders.
  • Spinal muscular atrophy (SMA) is a significant neurodegenerative disorder with potential genetic underpinnings in the region.

Purpose of the Study:

  • To investigate the clinical characteristics and genetic basis of spinal muscular atrophy (SMA) in Pakistani children.
  • To determine the prevalence and common types of SMA presenting at Aga Khan University, Karachi.

Main Methods:

  • Retrospective review of medical charts for children diagnosed with SMA over a 10-year period.
  • Analysis of demographic data, parental consanguinity, and genetic testing results, including SMN1 and NAIP gene deletions.

Main Results:

  • SMA was diagnosed in 67 children, with SMA type I (Werdnig Hoffman disease) being the most common (56%).
  • High parental consanguinity (68%) and a history of developmental delay/early deaths in families were noted.
  • Survival motor neuron (SMN) 1 gene deletion was identified in 86% of genetically tested patients.

Conclusions:

  • SMA is a prevalent neurodegenerative disorder in Pakistan, predominantly SMA type I.
  • SMN1 gene deletion is the most common genetic finding, emphasizing its role in the Pakistani population.
  • The study highlights the necessity of prenatal diagnosis for early detection and management of SMA in Pakistan.
Abstract

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