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Machado-Joseph disease type 2

MedGen UID:
199707
Concept ID:
C0751669
Disease or Syndrome
Synonyms: Machado Joseph Disease Type II; Machado-Joseph Disease Type II; Type II Machado Joseph Disease; Type II 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:0017175
Orphanet: ORPHA276241

Definition

Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMachado-Joseph disease type 2
Follow this link to review classifications for Machado-Joseph disease type 2 in Orphanet.

Professional guidelines

PubMed

Li Z, Du X, Yang Y, Zhang L, Chen P, Kan Y, Pan J, Lin L, Liu D, Jiang X, Zhang CY, Pei Z, Chen X
Brain 2025 Mar 6;148(3):817-832. doi: 10.1093/brain/awae304. PMID: 39315766Free PMC Article
Watchon M, Robinson KJ, Luu L, An Y, Yuan KC, Plenderleith SK, Cheng F, Don EK, Nicholson GA, Lee A, Laird AS
FASEB J 2024 Jan 31;38(2):e23429. doi: 10.1096/fj.202300963RR. PMID: 38258931
Du YC, Dong Y, Cheng HL, Li QF, Yang L, Shao YR, Ma Y, Ni W, Gan SR, Wu ZY
Parkinsonism Relat Disord 2020 Sep;78:116-121. Epub 2020 Aug 4 doi: 10.1016/j.parkreldis.2020.07.024. PMID: 32814229

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
COVIDSurg Collaborative, GlobalSurg Collaborative
Br J Surg 2021 Sep 27;108(9):1056-1063. doi: 10.1093/bjs/znab101. PMID: 33761533Free PMC Article
Saute JAM, Jardim LB
Adv Exp Med Biol 2018;1049:321-348. doi: 10.1007/978-3-319-71779-1_17. PMID: 29427112
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

Chen Z, Alvarez Jerez P, Anderson C, Paucar M, Lee J, Nilsson D, Macpherson H, Scardamaglia A, Montgomery K, Hardy J, Singleton AB, Tucci A, Mathews KD, Fu YH, Engvall M, Laffita-Mesa J, Nennesmo I, Wedell A, Ptáček LJ, Blauwendraat C, Gustavsson EK, Svenningsson P, Ryten M, Houlden H
Mov Disord 2025 Feb;40(2):363-369. Epub 2024 Dec 5 doi: 10.1002/mds.30077. PMID: 39635987Free PMC Article
Miranda CO, Nobre RJ, Paiva VH, Duarte JV, Castelhano J, Petrella LI, Sereno J, Santana M, Afonso S, Januário C, Castelo-Branco M, de Almeida LP
Acta Neuropathol Commun 2022 Mar 19;10(1):37. doi: 10.1186/s40478-022-01329-4. PMID: 35305685Free PMC Article
COVIDSurg Collaborative, GlobalSurg Collaborative
Br J Surg 2021 Sep 27;108(9):1056-1063. doi: 10.1093/bjs/znab101. PMID: 33761533Free PMC Article
Saute JAM, Jardim LB
Adv Exp Med Biol 2018;1049:321-348. doi: 10.1007/978-3-319-71779-1_17. PMID: 29427112
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

McLoughlin HS, Gundry K, Rainwater O, Schuster KH, Wellik IG, Zalon AJ, Benneyworth MA, Eberly LE, Öz G
Ann Neurol 2023 Oct;94(4):658-671. Epub 2023 Aug 2 doi: 10.1002/ana.26713. PMID: 37243335Free 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
Saute JAM, Jardim LB
Adv Exp Med Biol 2018;1049:321-348. doi: 10.1007/978-3-319-71779-1_17. PMID: 29427112
Nunes MB, Martinez AR, Rezende TJ, Friedman JH, Lopes-Cendes I, D'Abreu A, França MC Jr
Parkinsonism Relat Disord 2015 Dec;21(12):1441-7. Epub 2015 Oct 30 doi: 10.1016/j.parkreldis.2015.10.016. PMID: 26552869
Sakai T
Med Hypotheses 2001 Aug;57(2):180-2. doi: 10.1054/mehy.2001.1293. PMID: 11461169

Prognosis

Weber N, Buchholz M, Rädke A, Faber J, Schmitz-Hübsch T, Jacobi H, Klockgether T, Hoffmann W, Michalowsky B; EUROSCA study group; ESMI study group
Cerebellum 2024 Aug;23(4):1466-1477. Epub 2024 Jan 27 doi: 10.1007/s12311-024-01657-2. PMID: 38279001Free PMC Article
de Oliveira CM, Leotti VB, Cappelli AH, Rocha AG, Ecco G, Bolzan G, Kersting N, Saraiva-Pereira ML, Jardim LB
Mov Disord 2023 Jan;38(1):26-34. Epub 2022 Sep 21 doi: 10.1002/mds.29226. PMID: 36129443
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
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

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
Miranda CO, Nobre RJ, Paiva VH, Duarte JV, Castelhano J, Petrella LI, Sereno J, Santana M, Afonso S, Januário C, Castelo-Branco M, de Almeida LP
Acta Neuropathol Commun 2022 Mar 19;10(1):37. doi: 10.1186/s40478-022-01329-4. PMID: 35305685Free PMC Article
Du YC, Ma Y, Shao YR, Gan SR, Dong Y, Wu ZY
Cerebellum 2020 Dec;19(6):902-906. doi: 10.1007/s12311-020-01167-x. PMID: 32676850
Moscovich M, Munhoz RP, Moro A, Raskin S, McFarland K, Ashizawa T, Teive HAG, Silveira-Moriyama L
Cerebellum 2019 Feb;18(1):85-90. doi: 10.1007/s12311-018-0954-1. PMID: 29922950Free PMC Article
Saute JAM, Jardim LB
Adv Exp Med Biol 2018;1049:321-348. doi: 10.1007/978-3-319-71779-1_17. PMID: 29427112

Recent systematic reviews

de Almeida Franzoi AE, da Silva GF, de Souza Somensi E, de Moura Campos MH, Wollmann GM, Fustes OJH, Marques GL, Teive HAG
Cerebellum 2024 Dec;23(6):2593-2606. Epub 2024 Aug 29 doi: 10.1007/s12311-024-01730-w. PMID: 39198325
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
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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