| Autosomal recessive distal spinal muscular atrophy 1 | |
|---|---|
| Classification and external resources | |
| OMIM | 604320 |
Autosomal recessive distal spinal muscular atrophy 1 (or spinal muscular atrophy with respiratory distress type 1, or distal spinal muscular atrophy 1)[1] is a form of spinal muscular atrophy.
It is characterized by intrauterine growth retardation, often premature birth, foot deformity, and a characteristic pattern of breathing (the stomach draws inward with inspiration) that indicates weakness of the diaphragm; in classic SMA type 1 the diaphragm is strong and the stomach prominently protrudes with inspiration (paradoxic breathing pattern).
It is associated with IGHMBP2.[2][3]
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  | Spinal muscular atrophy with respiratory distress type 1 (SMARD1) - Journal of Child Neurology -- Sign In Page |
| | Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1 - SpringerLink Home - Main |
| | Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) - Wiley InterScience :: Session Cookies |
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