Autosomal recessive distal spinal muscular atrophy 1
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. 
  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. ISBN 0043900411560. PMID 15290238. 
v · d · ePathology of the nervous system, primarily CNS (G04–G47, 323–349)
Inflammation
Encephalitis (Viral encephalitis, Herpesviral encephalitis) · Cavernous sinus thrombosis · Brain abscess (Amoebic)
Both/either
Brain/
encephalopathy
Episodic/
paroxysmal
Intracranial hypertension (Hydrocephalus/NPH, Idiopathic intracranial hypertension) · Cerebral edema · Intracranial hypotension
Other
Brain herniation · Reye's · Hepatic encephalopathy · Toxic encephalopathy
Spinal cord/
myelopathy
Both/either
UMN only: PLS · PP · HSP
LMN only: PMA · PBP (Fazio-Londe, Infantile progressive bulbar palsy) · SMA (SMN-linked, Kennedy disease, SMAX2, DSMA1)
both: ALS

M: CNS

anat(n/s/m/p/4/e/b/d/c/a/f/l/g)/phys/devp

noco(m/d/e/h/v/s)/cong/tumr, sysi/epon, injr

proc, drug(N1A/2AB/C/3/4/7A/B/C/D)



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