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.
Original language | English (US) |
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Pages (from-to) | 817-819 |
Number of pages | 3 |
Journal | Pediatric pulmonology |
Volume | 46 |
Issue number | 8 |
DOIs | |
State | Published - Aug 2011 |
Keywords
- SMA
- SMARD1
- hemidiaphragm paralysis
- immunoglobulin μ-binding protein 2
- neuromuscular disease
- respiratory failure
- stridor