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Machado-Joseph disease type 3

MedGen UID:
155611
Concept ID:
C0751670
Disease or Syndrome
Synonyms: Machado Joseph Disease Type III; Machado-Joseph Disease Type III; Type III Machado Joseph Disease; Type III Machado-Joseph Disease
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0017176
Orphanet: ORPHA276244

Definition

Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMachado-Joseph disease type 3
Follow this link to review classifications for Machado-Joseph disease type 3 in Orphanet.

Professional guidelines

PubMed

Watchon M, Wright AL, Ahel HI, Robinson KJ, Plenderleith SK, Kuriakose A, Yuan KC, Laird AS
Mol Brain 2024 Mar 5;17(1):15. doi: 10.1186/s13041-024-01085-7. PMID: 38443995Free PMC Article
Schuster KH, Zalon AJ, DiFranco DM, Putka AF, Stec NR, Jarrah SI, Naeem A, Haque Z, Zhang H, Guan Y, McLoughlin HS
Mol Ther 2024 May 1;32(5):1359-1372. Epub 2024 Feb 29 doi: 10.1016/j.ymthe.2024.02.033. PMID: 38429929Free PMC Article
Oliveira JBL, Martinez ARM, França MC Jr
Expert Opin Pharmacother 2022 Oct;23(15):1687-1694. Epub 2022 Oct 19 doi: 10.1080/14656566.2022.2135432. PMID: 36254604

Recent clinical studies

Etiology

Sarafidis P, Agarwal R, Pitt B, Wanner C, Filippatos G, Boletis J, Tuttle KR, Ruilope LM, Rossing P, Toto R, Anker SD, Liu ZH, Joseph A, Ahlers C, Brinker M, Lawatscheck R, Bakris G; FIDELIO-DKD and FIGARO-DKD Investigators
Clin J Am Soc Nephrol 2023 May 1;18(5):602-612. Epub 2023 Apr 7 doi: 10.2215/CJN.0000000000000149. PMID: 36927680Free PMC Article
Koppenol R, Conceição A, Afonso IT, Afonso-Reis R, Costa RG, Tomé S, Teixeira D, da Silva JP, Côdesso JM, Brito DVC, Mendonça L, Marcelo A, Pereira de Almeida L, Matos CA, Nóbrega C
Brain 2023 Jun 1;146(6):2346-2363. doi: 10.1093/brain/awac473. PMID: 36511898Free PMC Article
Duarte-Silva S, Maciel P
Adv Exp Med Biol 2018;1049:369-394. doi: 10.1007/978-3-319-71779-1_19. PMID: 29427114
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320
Teive HA
Arq Neuropsiquiatr 2009 Dec;67(4):1133-42. PMID: 20069236

Diagnosis

Hernández-Carralero E, Cabrera E, Rodríguez-Torres G, Hernández-Reyes Y, Singh AN, Santa-María C, Fernández-Justel JM, Janssens RC, Marteijn JA, Evert BO, Mailand N, Gómez M, Ramadan K, Smits VAJ, Freire R
Nucleic Acids Res 2023 Jun 23;51(11):5396-5413. doi: 10.1093/nar/gkad212. PMID: 36971114Free PMC Article
Cornejo-Olivas M, Solis-Ponce L, Araujo-Aliaga I, Milla-Neyra K, Ortega O, Illanes-Manrique M, Mazzetti P, Manrique-Enciso C, Cubas-Montecino D, Saraiva-Pereira ML, Jardim LB, Sarapura-Castro E
Cerebellum 2023 Dec;22(6):1192-1199. Epub 2022 Nov 3 doi: 10.1007/s12311-022-01491-4. PMID: 36323979
Saute JAM, Jardim LB
Adv Exp Med Biol 2018;1049:321-348. doi: 10.1007/978-3-319-71779-1_17. PMID: 29427112
Mendonça N, França MC Jr, Gonçalves AF, Januário C
Adv Exp Med Biol 2018;1049:255-273. doi: 10.1007/978-3-319-71779-1_13. PMID: 29427108
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320

Therapy

Sarafidis P, Agarwal R, Pitt B, Wanner C, Filippatos G, Boletis J, Tuttle KR, Ruilope LM, Rossing P, Toto R, Anker SD, Liu ZH, Joseph A, Ahlers C, Brinker M, Lawatscheck R, Bakris G; FIDELIO-DKD and FIGARO-DKD Investigators
Clin J Am Soc Nephrol 2023 May 1;18(5):602-612. Epub 2023 Apr 7 doi: 10.2215/CJN.0000000000000149. PMID: 36927680Free PMC Article
Costa MDC
Curr Opin Neurol 2020 Aug;33(4):519-526. doi: 10.1097/WCO.0000000000000832. PMID: 32657894
Duarte-Silva S, Maciel P
Adv Exp Med Biol 2018;1049:369-394. doi: 10.1007/978-3-319-71779-1_19. PMID: 29427114
Saute JAM, Jardim LB
Adv Exp Med Biol 2018;1049:321-348. doi: 10.1007/978-3-319-71779-1_17. PMID: 29427112
Mendonça N, França MC Jr, Gonçalves AF, Januário C
Adv Exp Med Biol 2018;1049:255-273. doi: 10.1007/978-3-319-71779-1_13. PMID: 29427108

Prognosis

Toulis V, Casaroli-Marano R, Camós-Carreras A, Figueras-Roca M, Sánchez-Dalmau B, Muñoz E, Ashraf NS, Ferreira AF, Khan N, Marfany G, Costa MDC
Neurobiol Dis 2022 Aug;170:105774. Epub 2022 May 21 doi: 10.1016/j.nbd.2022.105774. PMID: 35605759
Hengel H, Martus P, Faber J, Garcia-Moreno H, Solanky N, Giunti P, Klockgether T, Reetz K, van de Warrenburg BP, Pereira de Almeida L, Santana MM, Januário C, Silva P, Thieme A, Infante J, de Vries J, Lima M, Ferreira AF, Bushara K, Jacobi H, Onyike C, Schmahmann JD, Hübener-Schmid J, Synofzik M, Schöls L
Mov Disord 2022 Feb;37(2):405-410. Epub 2021 Oct 29 doi: 10.1002/mds.28844. PMID: 34713931
Krauss S, Evert BO
J Mol Biol 2019 Apr 19;431(9):1729-1742. Epub 2019 Jan 18 doi: 10.1016/j.jmb.2019.01.019. PMID: 30664869
Duarte-Silva S, Maciel P
Adv Exp Med Biol 2018;1049:369-394. doi: 10.1007/978-3-319-71779-1_19. PMID: 29427114
da Silva Carvalho G, Saute JA, Haas CB, Torrez VR, Brochier AW, Souza GN, Furtado GV, Gheno T, Russo A, Monte TL, Schumacher-Schuh A, D'Avila R, Donis KC, Castilhos RM, Souza DO, Saraiva-Pereira ML, Torman VL, Camey S, Portela LV, Jardim LB
Cerebellum 2016 Aug;15(4):518-25. doi: 10.1007/s12311-015-0719-z. PMID: 26395908

Clinical prediction guides

Hernández-Carralero E, Cabrera E, Rodríguez-Torres G, Hernández-Reyes Y, Singh AN, Santa-María C, Fernández-Justel JM, Janssens RC, Marteijn JA, Evert BO, Mailand N, Gómez M, Ramadan K, Smits VAJ, Freire R
Nucleic Acids Res 2023 Jun 23;51(11):5396-5413. doi: 10.1093/nar/gkad212. PMID: 36971114Free PMC Article
Sarafidis P, Agarwal R, Pitt B, Wanner C, Filippatos G, Boletis J, Tuttle KR, Ruilope LM, Rossing P, Toto R, Anker SD, Liu ZH, Joseph A, Ahlers C, Brinker M, Lawatscheck R, Bakris G; FIDELIO-DKD and FIGARO-DKD Investigators
Clin J Am Soc Nephrol 2023 May 1;18(5):602-612. Epub 2023 Apr 7 doi: 10.2215/CJN.0000000000000149. PMID: 36927680Free PMC Article
Dantuma NP, Herzog LK
Adv Exp Med Biol 2020;1233:237-260. doi: 10.1007/978-3-030-38266-7_10. PMID: 32274760
Saute JAM, Jardim LB
Adv Exp Med Biol 2018;1049:321-348. doi: 10.1007/978-3-319-71779-1_17. PMID: 29427112
Bettencourt C, Lima M
Orphanet J Rare Dis 2011 Jun 2;6:35. doi: 10.1186/1750-1172-6-35. PMID: 21635785Free PMC Article

Recent systematic reviews

Yap KH, Kessels RPC, Azmin S, van de Warrenburg B, Mohamed Ibrahim N
Cerebellum 2022 Apr;21(2):314-327. Epub 2021 Jul 7 doi: 10.1007/s12311-021-01282-3. PMID: 34231180
Navarro-Compán V, Boel A, Boonen A, Mease P, Landewé R, Kiltz U, Dougados M, Baraliakos X, Bautista-Molano W, Carlier H, Chiowchanwisawakit P, Dagfinrud H, de Peyrecave N, El-Zorkany B, Fallon L, Gaffney K, Garrido-Cumbrera M, Gensler LS, Haroon N, Kwan YH, Machado PM, Maksymowych WP, Poddubnyy D, Protopopov M, Ramiro S, Shea B, Song IH, van Weely S, van der Heijde D
Semin Arthritis Rheum 2021 Dec;51(6):1342-1349. Epub 2021 Aug 1 doi: 10.1016/j.semarthrit.2021.07.021. PMID: 34489113
Sena LS, Dos Santos Pinheiro J, Saraiva-Pereira ML, Jardim LB
Clin Genet 2021 Mar;99(3):347-358. Epub 2020 Dec 2 doi: 10.1111/cge.13888. PMID: 33219521
de Mattos EP, Kolbe Musskopf M, Bielefeldt Leotti V, Saraiva-Pereira ML, Jardim LB
J Neurol Neurosurg Psychiatry 2019 Feb;90(2):203-210. Epub 2018 Oct 18 doi: 10.1136/jnnp-2018-319200. PMID: 30337442
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320

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