Spinal muscular atrophy with respiratory distress type 1
| Spinal muscular atrophy with respiratory distress type 1 |
| Classification and external resources |
| OMIM |
604320 |
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) or distal spinal muscular atrophy 1 (DSMA1) or autosomal recessive distal spinal muscular atrophy 1 is an autosomal recessive neurological disorder involving death of motor neurons in the spinal cord which results in general atrophy of body muscles. 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. Whilst symptoms may resemble a case of early spinal muscular atrophy (SMA) type 0 or 1, in SMA type 0/1 the diaphragm is strong and the stomach prominently protrudes with inspiration (paradoxic breathing pattern).
SMARD1 is usually diagnosed at or before birth. Life support is required in most cases and prognosis is usually negative.
The condition is associated with IGHMBP2. [1]
See also
Further reading
- Grohmann, K.; Varon, R.; Stolz, P.; Schuelke, M.; Janetzki, C.; Bertini, E.; Bushby, K.; Muntoni, F. et al. (2003). "Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)". Annals of Neurology 54 (6): 719–724. doi:10.1002/ana.10755. PMID 14681881. edit
- Kaindl, A. M.; Guenther, U. -P.; Rudnik-Schoneborn, S.; Varon, R.; Zerres, K.; Schuelke, M.; Hubner, C.; Von Au, K. (2007). "Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)". Journal of Child Neurology 23 (2): 199–204. doi:10.1177/0883073807310989. PMID 18263757. edit
- Messina, M. F.; Messina, S.; Gaeta, M.; Rodolico, C.; Salpietro Damiano, A. M.; Lombardo, F.; Crisafulli, G.; De Luca, F. (2011). "Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): An atypical phenotype and review of the literature". European Journal of Paediatric Neurology. doi:10.1016/j.ejpn.2011.10.005. edit
- Eckart, M.; Guenther, U. -P.; Idkowiak, J.; Varon, R.; Grolle, B.; Boffi, P.; Van Maldergem, L.; Hubner, C. et al. (2011). "The Natural Course of Infantile Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)". Pediatrics. doi:10.1542/peds.2011-0544. edit
References
- ^ Guenther, U. P.; Schuelke, M.; Bertini, E.; d’Amico, A.; Goemans, N.; Grohmann, K.; Hübner, C.; Varon, R. (2004). "Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1". Human Genetics 115 (4): 319–326. doi:10.1007/s00439-004-1156-0. PMID 15290238. edit
|
|
|
| Inflammation |
|
|
Brain/
encephalopathy |
|
|
|
|
|
|
autoimmune ( Multiple sclerosis, Neuromyelitis optica, Schilder's disease) · hereditary ( Adrenoleukodystrophy, Alexander, Canavan, Krabbe, ML, PMD, VWM, MFC, CAMFAK syndrome) · Central pontine myelinolysis · Marchiafava-Bignami disease · Alpers' disease
|
|
|
|
|
|
|
|
|
|
|
Other
|
|
|
|
Spinal cord/
myelopathy |
|
|
| Both/either |
|
|
|
|
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)
|
|
|
|