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Distal spinal muscular atrophy type 2

From Wikipedia, the free encyclopedia

Distal spinal muscular atrophy type 2
Other namesAutosomal recessive distal spinal muscular atrophy type 2
This condition is inherited in an autosomal recessive manner
SpecialtyNeurology Edit this on Wikidata

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]

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Transcription

One of the greatest dreams of my life was being able to go to a college that was not tailored to a wheelchair student. I wanted to get into the best university that I could because as most children with SMA, if not all SMA children, we are extremely bright. It's one of the great ironies of this disease. Weak muscles, strong, very strong intellect. So I was the president of my prep school's senior class. I had great grades. I had fairly competitive SAT scores and I was accepted at Duke University. I was the first freshman in a wheelchair ever accepted at Duke in nineteen seventy-four. People with disabilities, especially with spinal muscular atrophy, we have to devise ways of adapting for our needs and if something did not work, then we would devise a way that could work. You have to be imaginative. You have to be creative and you cannot take no for an answer. The bar exam was first of all extremely, extremely pressurized. This is my ticket to practice law and if you don't pass the exam, then you don't get to practice it and so the first day was a multiple-choice exam and i was given extra time to write out the -- there were thirty essays or twenty-four essays and I wrote for eight hours a day for three days and so as a result of that i really never wrote, i never wrote again. It was as if I had written all I can write for the bar examination.

See also

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-#. PMID 11117544. S2CID 196366598.
  2. ^ The Inherited Neuropathies Consortium. "Hereditary Motor Neuropathies (HMN)".
  3. ^ 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.

External links


This page was last edited on 23 April 2023, at 04:33
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