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Congenital Neuropathy

MedGen UID:
183084
•Concept ID:
C0920187
•
Congenital Abnormality

Definition

Neuropathy, the cause of which is present at birth. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital Neuropathy

Professional guidelines

PubMed

Combinatorial treatment increases IKAP levels in human cells generated from Familial Dysautonomia patients.
Yannai S, Zonszain J, Donyo M, Ast G
PLoS One 2019;14(3):e0211602. Epub 2019 Mar 19 doi: 10.1371/journal.pone.0211602. PMID: 30889183Free PMC Article
Congenital neuropathic bladder: practicalities and possibilities of conservational management.
Johnston JH, Farkas A
Urology 1975 Jun;5(6):719-27. doi: 10.1016/0090-4295(75)90339-8. PMID: 1136081

Recent clinical studies

Etiology

Hereditary Sensory and Autonomic Neuropathy: A Case Series of Six Children.
Suthar R, Sharawat IK, Eggermann K, Padmanabha H, Saini AG, Bharti B, Kurth I, Singhi P, Sankhyan N
Neurol India 2022 Jan-Feb;70(1):231-237. doi: 10.4103/0028-3886.338691. PMID: 35263888
Current opinion on the pharmacogenomics of paclitaxel-induced toxicity.
Al-Mahayri ZN, AlAhmad MM, Ali BR
Expert Opin Drug Metab Toxicol 2021 Jul;17(7):785-801. Epub 2021 Jun 29 doi: 10.1080/17425255.2021.1943358. PMID: 34128748
Familial incidence of urinary incontinence.
Elia G, Bergman J, Dye TD
Am J Obstet Gynecol 2002 Jul;187(1):53-5. doi: 10.1067/mob.2002.124842. PMID: 12114888
The pathogenesis of fetal hypokinesia. A neurological study of 75 cases of congenital contractures with emphasis on cerebral lesions.
Hageman G, Willemse J, van Ketel BA, Verdonck AF
Neuropediatrics 1987 Feb;18(1):22-33. doi: 10.1055/s-2008-1052430. PMID: 3561701

Diagnosis

Hereditary Sensory and Autonomic Neuropathy: A Case Series of Six Children.
Suthar R, Sharawat IK, Eggermann K, Padmanabha H, Saini AG, Bharti B, Kurth I, Singhi P, Sankhyan N
Neurol India 2022 Jan-Feb;70(1):231-237. doi: 10.4103/0028-3886.338691. PMID: 35263888
Current opinion on the pharmacogenomics of paclitaxel-induced toxicity.
Al-Mahayri ZN, AlAhmad MM, Ali BR
Expert Opin Drug Metab Toxicol 2021 Jul;17(7):785-801. Epub 2021 Jun 29 doi: 10.1080/17425255.2021.1943358. PMID: 34128748
Differentiating Familial Neuropathies from Guillain-Barré Syndrome.
Bordini BJ, Monrad P
Pediatr Clin North Am 2017 Feb;64(1):231-252. doi: 10.1016/j.pcl.2016.08.015. PMID: 27894447
Neurogenic bladder dysfunction.
Madersbacher HG
Curr Opin Urol 1999 Jul;9(4):303-7. doi: 10.1097/00042307-199907000-00005. PMID: 10459465
Congenital autonomic dysfunction with universal pain loss.
Axelrod FB, Cash R, Pearson J
J Pediatr 1983 Jul;103(1):60-4. doi: 10.1016/s0022-3476(83)80776-8. PMID: 6191018

Therapy

Current opinion on the pharmacogenomics of paclitaxel-induced toxicity.
Al-Mahayri ZN, AlAhmad MM, Ali BR
Expert Opin Drug Metab Toxicol 2021 Jul;17(7):785-801. Epub 2021 Jun 29 doi: 10.1080/17425255.2021.1943358. PMID: 34128748
Tocotrienol Treatment in Familial Dysautonomia: Open-Label Pilot Study.
Cheishvili D, Maayan C, Holzer N, Tsenter J, Lax E, Petropoulos S, Razin A
J Mol Neurosci 2016 Jul;59(3):382-91. Epub 2016 Apr 30 doi: 10.1007/s12031-016-0760-5. PMID: 27129499
Congenital neuropathic bladder: practicalities and possibilities of conservational management.
Johnston JH, Farkas A
Urology 1975 Jun;5(6):719-27. doi: 10.1016/0090-4295(75)90339-8. PMID: 1136081

Prognosis

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
Mehta P, Küspert M, Bale T, Brownstein CA, Towne MC, De Girolami U, Shi J, Beggs AH, Darras BT, Wegner M, Piao X, Agrawal PB
Muscle Nerve 2017 May;55(5):761-765. Epub 2017 Feb 3 doi: 10.1002/mus.25416. PMID: 27668699Free PMC Article
Episodic somnolence in an infant with Riley-Day syndrome.
Casella EB, Bousso A, Corvello CM, Fruchtengarten LV, Diament AJ
Pediatr Neurol 2005 Apr;32(4):273-4. doi: 10.1016/j.pediatrneurol.2004.09.010. PMID: 15797185
Neurogenic bladder dysfunction.
Madersbacher HG
Curr Opin Urol 1999 Jul;9(4):303-7. doi: 10.1097/00042307-199907000-00005. PMID: 10459465
Congenital hypomyelination with axonopathy.
Vital A, Vital C, Coquet M, Hernandorena X, Demarquez JM
Eur J Pediatr 1989 Feb;148(5):470-2. doi: 10.1007/BF00595918. PMID: 2920756

Clinical prediction guides

Tocotrienol Treatment in Familial Dysautonomia: Open-Label Pilot Study.
Cheishvili D, Maayan C, Holzer N, Tsenter J, Lax E, Petropoulos S, Razin A
J Mol Neurosci 2016 Jul;59(3):382-91. Epub 2016 Apr 30 doi: 10.1007/s12031-016-0760-5. PMID: 27129499
IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia.
Cheishvili D, Maayan C, Cohen-Kupiec R, Lefler S, Weil M, Ast G, Razin A
Hum Mol Genet 2011 Apr 15;20(8):1585-94. Epub 2011 Jan 27 doi: 10.1093/hmg/ddr036. PMID: 21273291
Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells.
Keren H, Donyo M, Zeevi D, Maayan C, Pupko T, Ast G
PLoS One 2010 Dec 29;5(12):e15884. doi: 10.1371/journal.pone.0015884. PMID: 21209961Free PMC Article
Deletions in the spinal muscular atrophy gene region in a newborn with neuropathy and extreme generalized muscular weakness.
Hergersberg M, Glatzel M, Capone A, Achermann S, Hagmann A, Fischer J, Ersch J, Aguzzi A, Boltshauser E
Eur J Paediatr Neurol 2000;4(1):35-8. doi: 10.1053/ejpn.1999.0258. PMID: 10701103

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