A -2- month old child with Spinal Muscular Atrophy Type 1 with Pneumonia: A case report

Spinal muscular atrophy (SMA) is a autosomal recessive disease characterized by weakness, hypotonia and atrophy. SMA caused mutation or deletion of the survivor motor neuron gene (SMN1), which located in telomere region chromosome 5q13. Incidence 1:6000-10000 newborn. Confirmatory diagnosis can be established molecular genetic analysis. Here 2- month- old female baby was admitted into department pediatrics Sylhet Women’s Medical College Hospital with because less movement whole body for 1 month repeated cough respiratory distress same duration. Baby dyspneic, chest drawing crepitation present over both lung fields. Signs lower lesions were present. It confirmed Polymerase chain reaction (PCR) SMN gene. Final pneumonia. Symptomatic, Supportive antibiotic treatment given. Genetic counseling, regular follow up advised.