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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
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

Recent clinical studies

Etiology

Chu XJ, Du K, Meng LC, Xie ZY, Zhu Y, Zhang W, Wang ZX, Yuan Y
Clin Neuropathol 2022 Nov-Dec;41(6):245-252. doi: 10.5414/NP301460. PMID: 35770518
Grimm A, Heiling B, Schumacher U, Witte OW, Axer H
Muscle Nerve 2014 Dec;50(6):976-83. Epub 2014 Oct 30 doi: 10.1002/mus.24238. PMID: 24634226
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
Finsterer J
Clin Neurol Neurosurg 2005 Apr;107(3):181-6. doi: 10.1016/j.clineuro.2004.07.001. PMID: 15823672

Diagnosis

Habib AA, Waheed W
Continuum (Minneap Minn) 2023 Oct 1;29(5):1327-1356. doi: 10.1212/CON.0000000000001289. PMID: 37851033
Sommer C
Curr Opin Neurol 2018 Oct;31(5):534-540. doi: 10.1097/WCO.0000000000000601. PMID: 30080717
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
J Neurol Sci 2011 May 15;304(1-2):9-16. Epub 2011 Mar 13 doi: 10.1016/j.jns.2011.02.012. PMID: 21402391
Finsterer J
Clin Neurol Neurosurg 2005 Apr;107(3):181-6. doi: 10.1016/j.clineuro.2004.07.001. PMID: 15823672

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
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
Simmons Z, Bromberg MB, Feldman EL, Blaivas M
Muscle Nerve 1993 Jan;16(1):77-83. doi: 10.1002/mus.880160113. PMID: 8380902

Prognosis

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
Bouchard C, Lacroix C, Planté V, Adams D, Chedru F, Guglielmi JM, Said G
Neurology 1999 Feb;52(3):498-503. doi: 10.1212/wnl.52.3.498. PMID: 10025777

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
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
Hughes RA
Acta Neurol Belg 1994;94(2):128-32. PMID: 8036880

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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