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| 1 | Camila Xu | + 818 word(s) | 818 | 2020-12-15 07:26:44 |
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Xu, C. Hereditary Neuralgic Amyotrophy. Encyclopedia. Available online: https://encyclopedia.pub/entry/4078 (accessed on 29 September 2026).
Xu C. Hereditary Neuralgic Amyotrophy. Encyclopedia. Available at: https://encyclopedia.pub/entry/4078. Accessed September 29, 2026.
Xu, Camila. "Hereditary Neuralgic Amyotrophy" Encyclopedia, https://encyclopedia.pub/entry/4078 (accessed September 29, 2026).
Xu, C. (2020, December 23). Hereditary Neuralgic Amyotrophy. In Encyclopedia. https://encyclopedia.pub/entry/4078
Xu, Camila. "Hereditary Neuralgic Amyotrophy." Encyclopedia. Web. 23 December, 2020.
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Hereditary neuralgic amyotrophy is a disorder characterized by episodes of severe pain and muscle wasting (amyotrophy) in one or both shoulders and arms. Neuralgic pain is felt along the path of one or more nerves and often has no obvious physical cause. The network of nerves involved in hereditary neuralgic amyotrophy, called the brachial plexus, controls movement and sensation in the shoulders and arms.
genetic conditions
References
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- Hoque R, Schwendimann RN, Kelley RE, Bien-Willner R, Sivakumar K. Painfulbrachial plexopathies in SEPT9 mutations: adverse outcome related to comorbidstates. J Clin Neuromuscul Dis. 2008 Jun;9(4):379-84. doi:10.1097/CND.0b013e318166ee89.
- Klein CJ, Wu Y, Cunningham JM, Windebank AJ, Dyck PJ, Friedenberg SM, KleinDM, Dyck PJ. SEPT9 mutations and a conserved 17q25 sequence in sporadic andhereditary brachial plexus neuropathy. Arch Neurol. 2009 Feb;66(2):238-43. doi:10.1001/archneurol.2008.585.
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- Laccone F, Hannibal MC, Neesen J, Grisold W, Chance PF, Rehder H. Dysmorphicsyndrome of hereditary neuralgic amyotrophy associated with a SEPT9 genemutation--a family study. Clin Genet. 2008 Sep;74(3):279-83. doi:10.1111/j.1399-0004.2008.01022.x.
- Landsverk ML, Ruzzo EK, Mefford HC, Buysse K, Buchan JG, Eichler EE, Petty EM,Peterson EA, Knutzen DM, Barnett K, Farlow MR, Caress J, Parry GJ, Quan D,Gardner KL, Hong M, Simmons Z, Bird TD, Chance PF, Hannibal MC. Duplicationwithin the SEPT9 gene associated with a founder effect in North American familieswith hereditary neuralgic amyotrophy. Hum Mol Genet. 2009 Apr 1;18(7):1200-8.doi: 10.1093/hmg/ddp014.
- McDade SS, Hall PA, Russell SE. Translational control of SEPT9 isoforms isperturbed in disease. Hum Mol Genet. 2007 Apr 1;16(7):742-52.
- Sudo K, Ito H, Iwamoto I, Morishita R, Asano T, Nagata K. SEPT9 sequencealternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling. HumMutat. 2007 Oct;28(10):1005-13.
- van Alfen N, Hannibal MC, Chance PF, van Engelen BGM. Hereditary NeuralgicAmyotrophy – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2008 Feb 27 [updated2012 Dec 6]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, StephensK, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1395/
- van Alfen N, van der Werf SP, van Engelen BG. Long-term pain, fatigue, andimpairment in neuralgic amyotrophy. Arch Phys Med Rehabil. 2009 Mar;90(3):435-9. doi: 10.1016/j.apmr.2008.08.216.
- van Alfen N, van Engelen BG. The clinical spectrum of neuralgic amyotrophy in 246 cases. Brain. 2006 Feb;129(Pt 2):438-50.
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