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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

Treatment of Charcot-Marie-Tooth neuropathies.
Beloribi-Djefaflia S, Attarian S
Rev Neurol (Paris) 2023 Jan-Feb;179(1-2):35-48. Epub 2022 Dec 30 doi: 10.1016/j.neurol.2022.11.006. PMID: 36588067
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
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

Septo-optic dysplasia.
Kumar V, Karunakaran A, Valakada J
Int Ophthalmol 2018 Feb;38(1):337-338. Epub 2017 Jan 3 doi: 10.1007/s10792-016-0437-7. PMID: 28050731
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
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

Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies.
Stavrou M, Sargiannidou I, Georgiou E, Kagiava A, Kleopa KA
Int J Mol Sci 2021 Jun 3;22(11) doi: 10.3390/ijms22116048. PMID: 34205075Free PMC Article
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
Cardiovascular Dysfunction in Multiple Sclerosis.
Kaplan TB, Berkowitz AL, Samuels MA
Neurologist 2015 Dec;20(6):108-14. doi: 10.1097/NRL.0000000000000064. PMID: 26671744

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
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
Charcot-Marie-tooth disease.
Casasnovas C, Cano LM, Albertí A, Céspedes M, Rigo G
Foot Ankle Spec 2008 Dec;1(6):350-4. Epub 2008 Oct 22 doi: 10.1177/1938640008326247. PMID: 19825739
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

Malformations of cerebral development and clues from the peripheral nervous system: A systematic literature review.
Rijckmans E, Stouffs K, Jansen AC, Brock S
Eur J Paediatr Neurol 2022 Mar;37:155-164. Epub 2021 Aug 31 doi: 10.1016/j.ejpn.2021.08.006. PMID: 34535379
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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