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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]

References

  1. ^ Kaindl AM, Guenther UP, Rudnik-Schöneborn S, et al. (February 2008). "Spinal muscular atrophy with respiratory distress type 1 (SMARD1)". J. Child Neurol. 23 (2): 199–204. doi:10.1177/0883073807310989. PMID 18263757. http://jcn.sagepub.com/cgi/pmidlookup?view=long&pmid=18263757.  
  2. ^ Grohmann K, Varon R, Stolz P, et al. (December 2003). "Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)". Ann. Neurol. 54 (6): 719–24. doi:10.1002/ana.10755. PMID 14681881. http://dx.doi.org/10.1002/ana.10755.  
  3. ^ Guenther UP, Schuelke M, Bertini E, et al. (September 2004). "Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1". Hum. Genet. 115 (4): 319–26. doi:10.1007/s00439-004-1156-0. PMID 15290238. http://dx.doi.org/10.1007/s00439-004-1156-0.  
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