Distal spinal muscular atrophy type 2

This article is about a genetic disorder linked to a defect in the SIGMAR1 gene. For other conditions with similar name, see Spinal muscular atrophies.
Distal spinal muscular atrophy type 2
Classification and external resources
OMIM 605726

Distal spinal muscular atrophy type 2 (DSMA2), also known as Jerash type distal hereditary motor neuropathy (HMN-J) — is a very rare childhood-onset genetic disorder characterised by progressive muscle wasting affecting lower and subsequently upper limbs. The disorder has been described in Arab inhabitants of Jerash region in Jordan[1][2] as well as in a Chinese family.[3]

The condition is linked to a genetic mutation in the SIGMAR1 gene on chromosome 19 (locus 19p13.3) and is likely inherited in an autosomal recessive manner.[3]

References

  1. ↑ Christodoulou, K; Zamba, E; Tsingis, M; Mubaidin, A; Horani, K; Abu-Sheik, S; El-Khateeb, M; Kyriacou, K; Kyriakides, T; Al-Qudah, AK; Middleton, L (December 2000). "A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12". Annals of Neurology 48 (6): 877–84. doi:10.1002/1531-8249(200012)48:6<877::AID-ANA8>3.0.CO;2-# (inactive 2015-12-04). PMID 11117544.
  2. ↑ The Inherited Neuropathies Consortium. "Hereditary Motor Neuropathies (HMN)".
  3. 1 2 Li, X; Hu, Z; Liu, L; Xie, Y; Zhan, Y; Zi, X; Wang, J; Wu, L; Xia, K; Tang, B; Zhang, R (2015). "A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy". Neurology 84 (24): 2430–7. doi:10.1212/WNL.0000000000001680. PMID 26078401.

See also


This article is issued from Wikipedia - version of the Tuesday, February 16, 2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.