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Mixed demyelinating and axonal polyneuropathy

MedGen UID:
870461
Concept ID:
C4024907
Disease or Syndrome
HPO: HP:0007327

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Mixed demyelinating and axonal polyneuropathy

Conditions with this feature

Wilson disease
MedGen UID:
42426
Concept ID:
C0019202
Disease or Syndrome
Wilson disease is a disorder of copper metabolism that can present with hepatic, neurologic, or psychiatric disturbances, or a combination of these, in individuals ranging from age three years to older than 50 years; symptoms vary among and within families. Liver disease includes recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease. Neurologic presentations include movement disorders (tremors, poor coordination, loss of fine-motor control, chorea, choreoathetosis) or rigid dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement). Psychiatric disturbance includes depression, neurotic behaviors, disorganization of personality, and, occasionally, intellectual deterioration. Kayser-Fleischer rings, frequently present, result from copper deposition in Descemet's membrane of the cornea and reflect a high degree of copper storage in the body.

Professional guidelines

PubMed

Rosenbaum E, Marks D, Raza S
Hematol Oncol 2018 Feb;36(1):3-14. Epub 2017 Apr 10 doi: 10.1002/hon.2417. PMID: 28397326
Kuwabara S, Dispenzieri A, Arimura K, Misawa S, Nakaseko C
Cochrane Database Syst Rev 2012 Jun 13;2012(6):CD006828. doi: 10.1002/14651858.CD006828.pub3. PMID: 22696361Free PMC Article
Finsterer J
Acta Neurol Scand 2005 Aug;112(2):115-25. doi: 10.1111/j.1600-0404.2005.00448.x. PMID: 16008538

Recent clinical studies

Therapy

van Tilburg SJ, Teunissen CE, Maas CCHM, Thomma RCM, Walgaard C, Heijst H, Huizinga R, van Doorn PA, Jacobs BC
EBioMedicine 2024 Apr;102:105072. Epub 2024 Mar 22 doi: 10.1016/j.ebiom.2024.105072. PMID: 38518653Free PMC Article
Habib AA, Waheed W
Continuum (Minneap Minn) 2023 Oct 1;29(5):1327-1356. doi: 10.1212/CON.0000000000001289. PMID: 37851033
Wang Q, Duan X, Dong M, Sun S, Zhang P, Liu F, Wang L, Wang R
PLoS One 2022;17(9):e0274765. Epub 2022 Sep 16 doi: 10.1371/journal.pone.0274765. PMID: 36112660Free PMC Article
Wijdicks EF, Klein CJ
Mayo Clin Proc 2017 Mar;92(3):467-479. doi: 10.1016/j.mayocp.2016.12.002. PMID: 28259232
Finsterer J
Acta Neurol Scand 2005 Aug;112(2):115-25. doi: 10.1111/j.1600-0404.2005.00448.x. PMID: 16008538

Prognosis

Coly M, Adams D, Attarian S, Bouhour F, Camdessanché JP, Carey G, Cauquil C, Chanson JB, Chrétien P, Créange A, Delmont E, Fargeot G, Frachet S, Gendre T, Kuntzer T, Labeyrie C, Maisonobe T, Michaud M, Moulin M, Nicolas G, Noury JB, Péréon Y, Puma A, Sole G, Taithe F, Tard C, Théaudin M, Timsit S, Venditti L, Echaniz-Laguna A
J Neurol 2024 Aug;271(8):4982-4990. Epub 2024 May 20 doi: 10.1007/s00415-024-12410-4. PMID: 38767661
van Tilburg SJ, Teunissen CE, Maas CCHM, Thomma RCM, Walgaard C, Heijst H, Huizinga R, van Doorn PA, Jacobs BC
EBioMedicine 2024 Apr;102:105072. Epub 2024 Mar 22 doi: 10.1016/j.ebiom.2024.105072. PMID: 38518653Free PMC Article
Habib AA, Waheed W
Continuum (Minneap Minn) 2023 Oct 1;29(5):1327-1356. doi: 10.1212/CON.0000000000001289. PMID: 37851033
Kuwabara S, Dispenzieri A, Arimura K, Misawa S, Nakaseko C
Cochrane Database Syst Rev 2012 Jun 13;2012(6):CD006828. doi: 10.1002/14651858.CD006828.pub3. PMID: 22696361Free PMC Article
Pilo B, de Blas G, Sobrido MJ, Navarro C, Grandas F, Barrero FJ, Moya MA, Jimenez-Escrig A
Muscle Nerve 2011 Apr;43(4):531-6. doi: 10.1002/mus.21905. PMID: 21404287

Clinical prediction guides

Coly M, Adams D, Attarian S, Bouhour F, Camdessanché JP, Carey G, Cauquil C, Chanson JB, Chrétien P, Créange A, Delmont E, Fargeot G, Frachet S, Gendre T, Kuntzer T, Labeyrie C, Maisonobe T, Michaud M, Moulin M, Nicolas G, Noury JB, Péréon Y, Puma A, Sole G, Taithe F, Tard C, Théaudin M, Timsit S, Venditti L, Echaniz-Laguna A
J Neurol 2024 Aug;271(8):4982-4990. Epub 2024 May 20 doi: 10.1007/s00415-024-12410-4. PMID: 38767661
van Tilburg SJ, Teunissen CE, Maas CCHM, Thomma RCM, Walgaard C, Heijst H, Huizinga R, van Doorn PA, Jacobs BC
EBioMedicine 2024 Apr;102:105072. Epub 2024 Mar 22 doi: 10.1016/j.ebiom.2024.105072. PMID: 38518653Free PMC Article
Acarli ANÖ, Ünverengil G, Şirin NG, Çakar A, Durmuş H, Parman Y
Muscle Nerve 2022 Dec;66(6):736-743. Epub 2022 Oct 9 doi: 10.1002/mus.27726. PMID: 36151750
Lee-Chen L, Williams-de-Roux R, Chiquete E, Aceves-Buendía JJ, Ruiz-Ruiz E, Portillo-Valle J, Bliskunova T, Rodríguez-Perea E, Toapanta-Yanchapaxi L, García-Ramos G, Cantú-Brito C, Estañol B
Gac Med Mex 2021;157(5):466-472. doi: 10.24875/GMM.M21000600. PMID: 35104271
Ezzeldin N, Abdel Galil SM, Said D, Kamal NM, Amer M
Int J Rheum Dis 2019 May;22(5):826-833. Epub 2018 Dec 21 doi: 10.1111/1756-185X.13462. PMID: 30575307

Recent systematic reviews

Santos LOD, Fernandes TRMO, Barbosa TRS, Batista JADS, Souza CDF
Rev Assoc Med Bras (1992) 2021 Jan;67(1):140-149. doi: 10.1590/1806-9282.67.01.20200422. PMID: 34161469
Kuwabara S, Dispenzieri A, Arimura K, Misawa S, Nakaseko C
Cochrane Database Syst Rev 2012 Jun 13;2012(6):CD006828. doi: 10.1002/14651858.CD006828.pub3. PMID: 22696361Free PMC Article
Kuwabara S, Dispenzieri A, Arimura K, Misawa S
Cochrane Database Syst Rev 2008 Oct 8;(4):CD006828. doi: 10.1002/14651858.CD006828.pub2. PMID: 18843731

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