| Distal spinal muscular atrophy type 2 | |
|---|---|
| Other names | Autosomal recessive distal spinal muscular atrophy type 2 |
 | |
| This condition is inherited in an autosomal recessive manner | |
| Specialty |
Neurology
 |
Distal spinal muscular atrophy type 2 (DSMA2), also known as Jerash type distal hereditary motor neuropathy (HMNJ), 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]
- ^ 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-#. PMID 11117544. S2CID 196366598.
- ^ The Inherited Neuropathies Consortium. "Hereditary Motor Neuropathies (HMN)".
- ^ a b 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. S2CID 22155027.
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |
_(14784117803).jpg){kind=small} | This article about a medical condition affecting the nervous system is a stub. You can help Wikipedia by expanding it. |
| Distal spinal muscular atrophy type 2 | |
|---|---|
| Other names | Autosomal recessive distal spinal muscular atrophy type 2 |
|
| |
| This condition is inherited in an autosomal recessive manner | |
| Specialty |
Neurology
|
Distal spinal muscular atrophy type 2 (DSMA2), also known as Jerash type distal hereditary motor neuropathy (HMNJ), 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]
- ^ 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-#. PMID 11117544. S2CID 196366598.
- ^ The Inherited Neuropathies Consortium. "Hereditary Motor Neuropathies (HMN)".
- ^ a b 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. S2CID 22155027.
|
| This genetic disorder article is a stub. You can help Wikipedia by expanding it. |
|
| This article about a medical condition affecting the nervous system is a stub. You can help Wikipedia by expanding it. |