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Congenital peripheral neuropathy

MedGen UID:
870519
•Concept ID:
C4024967
•
Disease or Syndrome
HPO: HP:0006903

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Congenital peripheral neuropathy

Conditions with this feature

Neuropathy, congenital, with arthrogryposis multiplex
MedGen UID:
320286
•Concept ID:
C1834206
•
Disease or Syndrome
See: Condition Record
Neuropathy, congenital, with arthrogryposis multiplex

Professional guidelines

PubMed

Ocular neuromyotonia: a review of diagnosis and treatment.
Lee SK, Lee MS
Curr Opin Ophthalmol 2022 Nov 1;33(6):465-470. Epub 2022 Aug 17 doi: 10.1097/ICU.0000000000000894. PMID: 35980029
Non-Surgical Interventions for Lumbar Spinal Stenosis Leading To Neurogenic Claudication: A Clinical Practice Guideline.
Bussières A, Cancelliere C, Ammendolia C, Comer CM, Zoubi FA, Châtillon CE, Chernish G, Cox JM, Gliedt JA, Haskett D, Jensen RK, Marchand AA, Tomkins-Lane C, O'Shaughnessy J, Passmore S, Schneider MJ, Shipka P, Stewart G, Stuber K, Yee A, Ornelas J
J Pain 2021 Sep;22(9):1015-1039. Epub 2021 Apr 12 doi: 10.1016/j.jpain.2021.03.147. PMID: 33857615
Neuromuscular diseases: Diagnosis and management.
Mary P, Servais L, Vialle R
Orthop Traumatol Surg Res 2018 Feb;104(1S):S89-S95. Epub 2017 Nov 28 doi: 10.1016/j.otsr.2017.04.019. PMID: 29196274

Curated

UK NICE Clinical guideline (CG148), Urinary incontinence in neurological disease: assessment and management, 2023

Recent clinical studies

Etiology

A genome-wide association study identifies novel loci for paclitaxel-induced sensory peripheral neuropathy in CALGB 40101.
Baldwin RM, Owzar K, Zembutsu H, Chhibber A, Kubo M, Jiang C, Watson D, Eclov RJ, Mefford J, McLeod HL, Friedman PN, Hudis CA, Winer EP, Jorgenson EM, Witte JS, Shulman LN, Nakamura Y, Ratain MJ, Kroetz DL
Clin Cancer Res 2012 Sep 15;18(18):5099-109. Epub 2012 Jul 27 doi: 10.1158/1078-0432.CCR-12-1590. PMID: 22843789Free PMC Article
Neuropathology of infant with Pena-Shokeir I syndrome.
Takada E, Koyama N, Ogawa Y, Itoyama S, Takashima S
Pediatr Neurol 1994 May;10(3):241-3. doi: 10.1016/0887-8994(94)90031-0. PMID: 8060428

Diagnosis

Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency.
Appleton R, Riordan A, Tedman B, MacKenzie J, Helliwell T
Dev Med Child Neurol 1994 Jun;36(6):547-53. doi: 10.1111/j.1469-8749.1994.tb11886.x. PMID: 8005367

Therapy

A genome-wide association study identifies novel loci for paclitaxel-induced sensory peripheral neuropathy in CALGB 40101.
Baldwin RM, Owzar K, Zembutsu H, Chhibber A, Kubo M, Jiang C, Watson D, Eclov RJ, Mefford J, McLeod HL, Friedman PN, Hudis CA, Winer EP, Jorgenson EM, Witte JS, Shulman LN, Nakamura Y, Ratain MJ, Kroetz DL
Clin Cancer Res 2012 Sep 15;18(18):5099-109. Epub 2012 Jul 27 doi: 10.1158/1078-0432.CCR-12-1590. PMID: 22843789Free PMC Article

Prognosis

A genome-wide association study identifies novel loci for paclitaxel-induced sensory peripheral neuropathy in CALGB 40101.
Baldwin RM, Owzar K, Zembutsu H, Chhibber A, Kubo M, Jiang C, Watson D, Eclov RJ, Mefford J, McLeod HL, Friedman PN, Hudis CA, Winer EP, Jorgenson EM, Witte JS, Shulman LN, Nakamura Y, Ratain MJ, Kroetz DL
Clin Cancer Res 2012 Sep 15;18(18):5099-109. Epub 2012 Jul 27 doi: 10.1158/1078-0432.CCR-12-1590. PMID: 22843789Free PMC Article
Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study.
Manci EA, Martinez JE, Horenstein MG, Gardner TM, Ahmed A, Mancao MC, Gremse DA, Gardner DM, Nimityongskul P, Maertens P, Riddick L, Kavamura MI
Am J Med Genet A 2005 Aug 15;137(1):1-8. doi: 10.1002/ajmg.a.30834. PMID: 16007634

Clinical prediction guides

A genome-wide association study identifies novel loci for paclitaxel-induced sensory peripheral neuropathy in CALGB 40101.
Baldwin RM, Owzar K, Zembutsu H, Chhibber A, Kubo M, Jiang C, Watson D, Eclov RJ, Mefford J, McLeod HL, Friedman PN, Hudis CA, Winer EP, Jorgenson EM, Witte JS, Shulman LN, Nakamura Y, Ratain MJ, Kroetz DL
Clin Cancer Res 2012 Sep 15;18(18):5099-109. Epub 2012 Jul 27 doi: 10.1158/1078-0432.CCR-12-1590. PMID: 22843789Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2023
      UK NICE Clinical guideline (CG148), Urinary incontinence in neurological disease: assessment and management, 2023

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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