Distal spinal muscular atrophy type 2 explained
| Synonyms: | Autosomal recessive distal spinal muscular atrophy type 2 |
| Distal spinal muscular atrophy type 2 |
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.
See also
Notes and 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. A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12. Annals of Neurology. December 2000. 48. 6. 877–84. 11117544. 10.1002/1531-8249(200012)48:6<877::AID-ANA8>3.0.CO;2-#. 196366598 .
- Web site: Hereditary Motor Neuropathies (HMN) . The Inherited Neuropathies Consortium .
- 26078401. 2015. Li. X. A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy. Neurology. 84. 24. 2430–7. Hu. Z. Liu. L. Xie. Y. Zhan. Y. Zi. X. Wang. J. Wu. L. Xia. K. Tang. B. Zhang. R. 10.1212/WNL.0000000000001680. 22155027.
