U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Machado-Joseph disease type 1

MedGen UID:
155610
Concept ID:
C0751668
Disease or Syndrome
Synonyms: Machado Joseph Disease Type I; Machado-Joseph Disease Type I; Type I Machado Joseph Disease; Type I 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:0017174
Orphanet: ORPHA276238

Definition

Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMachado-Joseph disease type 1
Follow this link to review classifications for Machado-Joseph disease type 1 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
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
Tan S, Wang RH, Niu HX, Shi CH, Mao CY, Zhang R, Song B, Sun SL, Liu XJ, Hou HM, Liu YT, Gao Y, Fang H, Kong XD, Xu YM
Chin Med J (Engl) 2015 Feb 5;128(3):291-4. doi: 10.4103/0366-6999.150087. PMID: 25635421Free PMC Article

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
COVIDSurg Collaborative, GlobalSurg Collaborative
Br J Surg 2021 Sep 27;108(9):1056-1063. doi: 10.1093/bjs/znab101. PMID: 33761533Free PMC Article
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

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
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
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320
Subramony SH
Curr Opin Neurol 1994 Aug;7(4):316-22. doi: 10.1097/00019052-199408000-00007. PMID: 7952239

Therapy

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
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
Tezenas du Montcel S, Petit E, Olubajo T, Faber J, Lallemant-Dudek P, Bushara K, Perlman S, Subramony SH, Morgan D, Jackman B, Figueroa KP, Pulst SM, Fauret-Amsellem AL, Dufke C, Paulson HL, Öz G, Klockgether T, Durr A, Ashizawa T; READISCA Consortium Collaborators
Neurology 2023 Apr 25;100(17):e1836-e1848. Epub 2023 Feb 16 doi: 10.1212/WNL.0000000000207088. PMID: 36797067Free 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
Rossing P, Burgess E, Agarwal R, Anker SD, Filippatos G, Pitt B, Ruilope LM, Gillard P, MacIsaac RJ, Wainstein J, Joseph A, Brinker M, Roessig L, Scott C, Bakris GL; FIDELIO-DKD Investigators
Diabetes Care 2022 Apr 1;45(4):888-897. doi: 10.2337/dc21-1944. PMID: 35061867Free PMC Article

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
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
Souza GN, Kersting N, Gonçalves TA, Pacheco DLO, Saraiva-Pereira ML, Camey SA, Saute JAM, Jardim LB
Cancer Genet 2017 Apr;212-213:19-23. Epub 2017 Mar 30 doi: 10.1016/j.cancergen.2017.03.008. PMID: 28449807
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

de Oliveira CM, Leotti VB, Polita S, Anes M, Cappelli AH, Rocha AG, Ecco G, Bolzan G, Kersting N, Duarte JA, Saraiva-Pereira ML, Junior MCF, Rezende TJR, Jardim LB
J Neurol 2023 Sep;270(9):4276-4287. Epub 2023 May 16 doi: 10.1007/s00415-023-11763-6. PMID: 37193796Free 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
Tezenas du Montcel S, Petit E, Olubajo T, Faber J, Lallemant-Dudek P, Bushara K, Perlman S, Subramony SH, Morgan D, Jackman B, Figueroa KP, Pulst SM, Fauret-Amsellem AL, Dufke C, Paulson HL, Öz G, Klockgether T, Durr A, Ashizawa T; READISCA Consortium Collaborators
Neurology 2023 Apr 25;100(17):e1836-e1848. Epub 2023 Feb 16 doi: 10.1212/WNL.0000000000207088. PMID: 36797067Free 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
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

Recent systematic reviews

Qiu M, Wang R, Shen Y, Hu Z, Zhang Y
Cerebellum 2024 Aug;23(4):1604-1613. Epub 2023 Nov 17 doi: 10.1007/s12311-023-01628-z. PMID: 37975968
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
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320

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.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...