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
- ↑ 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.
- ↑ The Inherited Neuropathies Consortium. "Hereditary Motor Neuropathies (HMN)".
- 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
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