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  • Title: Noisy breathing and hemidiaphragm paralysis progressing to respiratory failure in an infant.
    Author: Baughn J, Gershan W, Rao A.
    Journal: Pediatr Pulmonol; 2011 Aug; 46(8):817-9. PubMed ID: 21360834.
    Abstract:
    Spinal muscular atrophy with respiratory distress (SMARD1) is a rare autosomal recessive disease that is caused by mutations in the gene encoding for immunoglobulin µ-binding protein 2. Unlike the relatively more common spinal muscular atrophy, patients with SMARD1 have respiratory distress prior to manifestation of distal muscle weakness making the diagnosis a challenge. Because respiratory distress is a hallmark feature of this disease, pediatric pulmonologists should recognize its features, and consider it as a diagnostic entity.
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