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Abnormality of peripheral nervous system electrophysiology

MedGen UID:
852897
Concept ID:
C0853150
Finding
Synonym: Abnormal nerve conduction study
 
HPO: HP:0030177

Definition

An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles. [from HPO]

Conditions with this feature

Spinocerebellar ataxia type 29
MedGen UID:
350085
Concept ID:
C1861732
Disease or Syndrome
Spinocerebellar ataxia-29 (SCA29) is an autosomal dominant neurologic disorder characterized by onset in infancy of delayed motor development and mild cognitive delay. Affected individuals develop a very slowly progressive or nonprogressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor (summary by Huang et al., 2012). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).

Professional guidelines

PubMed

Majander A, Jurkute N, Burté F, Brock K, João C, Huang H, Neveu MM, Chan CM, Duncan HJ, Kelly S, Burkitt-Wright E, Khoyratty F, Lai YT, Subash M, Chinnery PF, Bitner-Glindzicz M, Arno G, Webster AR, Moore AT, Michaelides M, Stockman A, Robson AG, Yu-Wai-Man P
Am J Ophthalmol 2022 Sep;241:9-27. Epub 2022 Apr 22 doi: 10.1016/j.ajo.2022.04.003. PMID: 35469785
Gencer M, Uluc K, Cetinkaya Y, Isak B, Tireli H, Us O, Tanridag T
Neurosciences (Riyadh) 2011 Jul;16(3):237-41. PMID: 21677614
Feldman RG, White RF
Environ Health Perspect 1996 Apr;104 Suppl 2(Suppl 2):227-37. doi: 10.1289/ehp.96104s2227. PMID: 9182031Free PMC Article

Recent clinical studies

Therapy

Simunovic MP, Grigg JR, Mahroo OA
Surv Ophthalmol 2022 Jul-Aug;67(4):1270-1286. Epub 2022 Jan 31 doi: 10.1016/j.survophthal.2022.01.008. PMID: 35093403
Ginanneschi F, Mondelli M, Cioncoloni D, Rossi A
J Electromyogr Kinesiol 2018 Jun;40:32-38. Epub 2018 Mar 20 doi: 10.1016/j.jelekin.2018.03.004. PMID: 29587171
Kuwabara S, Yuki N
Lancet Neurol 2013 Dec;12(12):1180-8. doi: 10.1016/S1474-4422(13)70215-1. PMID: 24229616
Staff NP, Engelstad J, Klein CJ, Amrami KK, Spinner RJ, Dyck PJ, Warner MA, Warner ME, Dyck PJ
Brain 2010 Oct;133(10):2866-80. Epub 2010 Sep 15 doi: 10.1093/brain/awq252. PMID: 20846945
Møller S, Henriksen JH
Gut 2008 Feb;57(2):268-78. doi: 10.1136/gut.2006.112177. PMID: 18192456

Prognosis

Shabeeb D, Najafi M, Hasanzadeh G, Hadian MR, Musa AE, Shirazi A
Diabetes Metab Syndr 2018 Jul;12(4):591-600. Epub 2018 Mar 28 doi: 10.1016/j.dsx.2018.03.026. PMID: 29610062
Scridon A, Şerban RC, Chevalier P
Arch Cardiovasc Dis 2018 Jan;111(1):59-69. Epub 2017 Dec 8 doi: 10.1016/j.acvd.2017.11.001. PMID: 29229215
Manogue M, Hirsh DS, Lloyd M
Heart Rhythm 2017 Jun;14(6):920-927. Epub 2017 Feb 12 doi: 10.1016/j.hrthm.2017.02.015. PMID: 28215570
Kuwabara S, Sekiguchi Y, Misawa S
Clin Neurophysiol 2017 Jan;128(1):215-219. Epub 2016 Nov 20 doi: 10.1016/j.clinph.2016.11.009. PMID: 27923188
Albers JW, Fink JK
Muscle Nerve 2004 Oct;30(4):410-22. doi: 10.1002/mus.20137. PMID: 15372536

Clinical prediction guides

Mouri N, Koike H, Fukami Y, Takahashi M, Yagi S, Furukawa S, Suzuki M, Kishimoto Y, Murate K, Nukui T, Yoshida T, Kudo Y, Tada M, Higashiyama Y, Watanabe H, Nakatsuji Y, Tanaka F, Katsuno M
Eur J Neurol 2024 Jan;31(1):e16091. Epub 2023 Oct 17 doi: 10.1111/ene.16091. PMID: 37847215Free PMC Article
Shabeeb D, Najafi M, Hasanzadeh G, Hadian MR, Musa AE, Shirazi A
Diabetes Metab Syndr 2018 Jul;12(4):591-600. Epub 2018 Mar 28 doi: 10.1016/j.dsx.2018.03.026. PMID: 29610062
Scridon A, Şerban RC, Chevalier P
Arch Cardiovasc Dis 2018 Jan;111(1):59-69. Epub 2017 Dec 8 doi: 10.1016/j.acvd.2017.11.001. PMID: 29229215
Manogue M, Hirsh DS, Lloyd M
Heart Rhythm 2017 Jun;14(6):920-927. Epub 2017 Feb 12 doi: 10.1016/j.hrthm.2017.02.015. PMID: 28215570
Staff NP, Engelstad J, Klein CJ, Amrami KK, Spinner RJ, Dyck PJ, Warner MA, Warner ME, Dyck PJ
Brain 2010 Oct;133(10):2866-80. Epub 2010 Sep 15 doi: 10.1093/brain/awq252. PMID: 20846945

Recent systematic reviews

Guerrero JI, Barragán LA, Martínez JD, Montoya JP, Peña A, Sobrino FE, Tovar-Spinoza Z, Ghotme KA
BMC Infect Dis 2021 Jun 2;21(1):515. doi: 10.1186/s12879-021-06185-6. PMID: 34078305Free PMC Article
Shabeeb D, Najafi M, Hasanzadeh G, Hadian MR, Musa AE, Shirazi A
Diabetes Metab Syndr 2018 Jul;12(4):591-600. Epub 2018 Mar 28 doi: 10.1016/j.dsx.2018.03.026. PMID: 29610062
Ginanneschi F, Mondelli M, Cioncoloni D, Rossi A
J Electromyogr Kinesiol 2018 Jun;40:32-38. Epub 2018 Mar 20 doi: 10.1016/j.jelekin.2018.03.004. PMID: 29587171
Berciano J, García A, Gallardo E, Peeters K, Pelayo-Negro AL, Álvarez-Paradelo S, Gazulla J, Martínez-Tames M, Infante J, Jordanova A
J Neurol 2017 Aug;264(8):1655-1677. Epub 2017 Mar 31 doi: 10.1007/s00415-017-8474-3. PMID: 28364294

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