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Abnormal peripheral nervous system physiology

MedGen UID:
1705638
•Concept ID:
C5139141
•
Anatomical Abnormality
HPO: HP:0032120

Definition

Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. [from HPO]

Professional guidelines

PubMed

Chronic inflammatory demyelinating polyradiculoneuropathy-Diagnostic pitfalls and treatment approach.
Stino AM, Naddaf E, Dyck PJ, Dyck PJB
Muscle Nerve 2021 Feb;63(2):157-169. Epub 2020 Sep 11 doi: 10.1002/mus.27046. PMID: 32914902
Diagnosis, pathophysiology, and management of cluster headache.
Hoffmann J, May A
Lancet Neurol 2018 Jan;17(1):75-83. Epub 2017 Nov 23 doi: 10.1016/S1474-4422(17)30405-2. PMID: 29174963
Central post-stroke pain: clinical characteristics, pathophysiology, and management.
Klit H, Finnerup NB, Jensen TS
Lancet Neurol 2009 Sep;8(9):857-68. doi: 10.1016/S1474-4422(09)70176-0. PMID: 19679277

Recent clinical studies

Etiology

PTEN Immunohistochemistry.
Terra SA, de Arruda Lourenção PLT, Rodrigues MAM
Arch Pathol Lab Med 2022 May 1;147(5):577-583. doi: 10.5858/arpa.2021-0424-OA. PMID: 35943858
The science of Hirschsprung disease: What we know and where we are headed.
Mueller JL, Goldstein AM
Semin Pediatr Surg 2022 Apr;31(2):151157. Epub 2022 Apr 18 doi: 10.1016/j.sempedsurg.2022.151157. PMID: 35690468
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
Classification and Current Management of Inner Ear Malformations.
Sennaroğlu L, Bajin MD
Balkan Med J 2017 Sep 29;34(5):397-411. Epub 2017 Aug 25 doi: 10.4274/balkanmedj.2017.0367. PMID: 28840850Free PMC Article
Hirschsprung's disease.
Kenny SE, Tam PK, Garcia-Barcelo M
Semin Pediatr Surg 2010 Aug;19(3):194-200. doi: 10.1053/j.sempedsurg.2010.03.004. PMID: 20610192

Diagnosis

The developmental etiology and pathogenesis of Hirschsprung disease.
Butler Tjaden NE, Trainor PA
Transl Res 2013 Jul;162(1):1-15. Epub 2013 Mar 22 doi: 10.1016/j.trsl.2013.03.001. PMID: 23528997Free PMC Article
Congenital cataracts-facial dysmorphism-neuropathy.
Kalaydjieva L
Orphanet J Rare Dis 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. PMID: 16939648Free PMC Article
Sensory neuron diseases.
Sghirlanzoni A, Pareyson D, Lauria G
Lancet Neurol 2005 Jun;4(6):349-61. doi: 10.1016/S1474-4422(05)70096-X. PMID: 15907739
Neuro-osteology.
Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237
Hirschprung's disease.
Sullivan PB
Arch Dis Child 1996 Jan;74(1):5-7. doi: 10.1136/adc.74.1.5. PMID: 8660047Free PMC Article

Therapy

Mini-Review: Mitochondrial dysfunction and chemotherapy-induced neuropathic pain.
Doyle TM, Salvemini D
Neurosci Lett 2021 Aug 24;760:136087. Epub 2021 Jun 26 doi: 10.1016/j.neulet.2021.136087. PMID: 34182057Free PMC Article
Advances in the understanding of cluster headache.
Leone M, Proietti Cecchini A
Expert Rev Neurother 2017 Feb;17(2):165-172. Epub 2016 Aug 8 doi: 10.1080/14737175.2016.1216796. PMID: 27454989
Neurocutaneous Syndromes and Brain Tumors.
Ullrich NJ
J Child Neurol 2016 Oct;31(12):1399-411. Epub 2015 Oct 12 doi: 10.1177/0883073815604220. PMID: 26459515
Post-surgical inflammatory neuropathy.
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
Cardiovascular complications of cirrhosis.
Møller S, Henriksen JH
Gut 2008 Feb;57(2):268-78. doi: 10.1136/gut.2006.112177. PMID: 18192456

Prognosis

Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies.
Klein CJ
Continuum (Minneap Minn) 2020 Oct;26(5):1224-1256. doi: 10.1212/CON.0000000000000927. PMID: 33003000
Cystic Fibrosis and the Nervous System.
Reznikov LR
Chest 2017 May;151(5):1147-1155. Epub 2016 Nov 19 doi: 10.1016/j.chest.2016.11.009. PMID: 27876591Free PMC Article
Moebius syndrome: clinical features, diagnosis, management and early intervention.
Picciolini O, Porro M, Cattaneo E, Castelletti S, Masera G, Mosca F, Bedeschi MF
Ital J Pediatr 2016 Jun 3;42(1):56. doi: 10.1186/s13052-016-0256-5. PMID: 27260152Free PMC Article
Hirschsprung's disease.
Kenny SE, Tam PK, Garcia-Barcelo M
Semin Pediatr Surg 2010 Aug;19(3):194-200. doi: 10.1053/j.sempedsurg.2010.03.004. PMID: 20610192
Neuro-osteology.
Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237

Clinical prediction guides

PTEN Immunohistochemistry.
Terra SA, de Arruda Lourenção PLT, Rodrigues MAM
Arch Pathol Lab Med 2022 May 1;147(5):577-583. doi: 10.5858/arpa.2021-0424-OA. PMID: 35943858
Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies.
Klein CJ
Continuum (Minneap Minn) 2020 Oct;26(5):1224-1256. doi: 10.1212/CON.0000000000000927. PMID: 33003000
Classification and Current Management of Inner Ear Malformations.
Sennaroğlu L, Bajin MD
Balkan Med J 2017 Sep 29;34(5):397-411. Epub 2017 Aug 25 doi: 10.4274/balkanmedj.2017.0367. PMID: 28840850Free PMC Article
Cystic Fibrosis and the Nervous System.
Reznikov LR
Chest 2017 May;151(5):1147-1155. Epub 2016 Nov 19 doi: 10.1016/j.chest.2016.11.009. PMID: 27876591Free PMC Article
Congenital cataracts-facial dysmorphism-neuropathy.
Kalaydjieva L
Orphanet J Rare Dis 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. PMID: 16939648Free PMC Article

Recent systematic reviews

D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis.
Palaiodimou L, Stefanou MI, Bakola E, Papadopoulou M, Kokotis P, Vrettou AR, Kapsia E, Petras D, Anastasakis A, Xifaras N, Karachaliou E, Touloumi G, Vlachopoulos C, Boletis IN, Giannopoulos S, Tsivgoulis G, Zompola C
Neurology 2022 Nov 8;99(19):e2188-e2200. doi: 10.1212/WNL.0000000000201102. PMID: 36344272
Congenital Zika syndrome: A systematic review.
Freitas DA, Souza-Santos R, Carvalho LMA, Barros WB, Neves LM, Brasil P, Wakimoto MD
PLoS One 2020;15(12):e0242367. Epub 2020 Dec 15 doi: 10.1371/journal.pone.0242367. PMID: 33320867Free PMC Article
Systemic Amyloidosis Recognition, Prognosis, and Therapy: A Systematic Review.
Gertz MA, Dispenzieri A
JAMA 2020 Jul 7;324(1):79-89. doi: 10.1001/jama.2020.5493. PMID: 32633805
Electrophysiological measurements of diabetic peripheral neuropathy: A systematic review.
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
The sympathetic nervous system and tendinopathy: a systematic review.
Jewson JL, Lambert GW, Storr M, Gaida JE
Sports Med 2015 May;45(5):727-43. doi: 10.1007/s40279-014-0300-9. PMID: 25655371

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