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Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

MedGen UID:
1382737
•Concept ID:
C4510610
•
Disease or Syndrome
Synonyms: Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia; Hereditary inclusion body myopathy type 3; hereditary inclusion body myopathy type 3; Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome; hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome; HIBM3; IBM3; Inclusion body myopathy autosomal dominant; Inclusion body myopathy type 3; inclusion body myopathy type 3; Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles
SNOMED CT: Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (724349009); Hereditary inclusion body myopathy type 3 (724349009); Inclusion body myopathy type 3 (724349009)
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.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019195
Orphanet: ORPHA79091

Definition

Disease characterised by congenital joint contractures (normalising during early childhood), external ophthalmoplegia and proximal muscle weakness. In adult cases, the muscular weakness is progressive. Nineteen affected individuals have been described from one large family. The causative gene, the hereditary inclusion-body myopathy (IBM3) gene, has been mapped to chromosome region 17p13.1. Inheritance is autosomal dominant. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

Professional guidelines

PubMed

Granulomatous disease in the head and neck: developing a differential diagnosis.
Nwawka OK, Nadgir R, Fujita A, Sakai O
Radiographics 2014 Sep-Oct;34(5):1240-56. doi: 10.1148/rg.345130068. PMID: 25208278
Genetic testing in the European Union: does economic evaluation matter?
Antoñanzas F, Rodríguez-Ibeas R, Hutter MF, Lorente R, Juárez C, Pinillos M
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Measurement of psychological factors associated with genetic testing for hereditary breast, ovarian and colon cancers.
Vadaparampil ST, Ropka M, Stefanek ME
Fam Cancer 2005;4(2):195-206. doi: 10.1007/s10689-004-1446-7. PMID: 15951974

Recent clinical studies

Etiology

Polyglutamine disorders: Pathogenesis and potential drug interventions.
Tandon S, Aggarwal P, Sarkar S
Life Sci 2024 May 1;344:122562. Epub 2024 Mar 14 doi: 10.1016/j.lfs.2024.122562. PMID: 38492921
Obesity and bowel cancer: from molecular mechanisms to interventions.
Mathers JC
Nutr Res 2019 Oct;70:26-31. Epub 2018 Sep 1 doi: 10.1016/j.nutres.2018.08.004. PMID: 30274687
CKD in MYH9-related disorders.
Singh N, Nainani N, Arora P, Venuto RC
Am J Kidney Dis 2009 Oct;54(4):732-40. Epub 2009 Sep 2 doi: 10.1053/j.ajkd.2009.06.023. PMID: 19726116
Mechanisms of disease: genetics of Paget's disease of bone and related disorders.
Daroszewska A, Ralston SH
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Kunze D, Rüstow B
Eur J Clin Chem Clin Biochem 1993 Aug;31(8):477-89. doi: 10.1515/cclm.1993.31.8.477. PMID: 8218579

Diagnosis

An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics.
Chintalaphani SR, Pineda SS, Deveson IW, Kumar KR
Acta Neuropathol Commun 2021 May 25;9(1):98. doi: 10.1186/s40478-021-01201-x. PMID: 34034831Free PMC Article
Diffusion-Weighted Imaging is Key to Diagnosing Specific Diseases.
Tokumaru AM, Saito Y, Murayma S
Magn Reson Imaging Clin N Am 2021 May;29(2):163-183. doi: 10.1016/j.mric.2021.02.001. PMID: 33902901
Epstein Syndrome.
Barrah S, Kheder R, Jebali H, Krid M, Smaoui W, Beji S, Hmida FB, Fatma LB, Rais L, Zouaghi MK
Saudi J Kidney Dis Transpl 2020 Jul-Aug;31(4):865-867. doi: 10.4103/1319-2442.292323. PMID: 32801250
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Gilchrist JM, Dandapat S
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Pathobiochemical aspects of cytoskeleton components.
Kunze D, Rüstow B
Eur J Clin Chem Clin Biochem 1993 Aug;31(8):477-89. doi: 10.1515/cclm.1993.31.8.477. PMID: 8218579

Therapy

Obesity and bowel cancer: from molecular mechanisms to interventions.
Mathers JC
Nutr Res 2019 Oct;70:26-31. Epub 2018 Sep 1 doi: 10.1016/j.nutres.2018.08.004. PMID: 30274687
Beta-blockers for preventing aortic dissection in Marfan syndrome.
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Cochrane Database Syst Rev 2017 Nov 7;11(11):CD011103. doi: 10.1002/14651858.CD011103.pub2. PMID: 29110304Free PMC Article
Intravenous immunoglobulin therapy for neurological disorders.
Harkins C, Hammond-Tooke G, Faed J
N Z Med J 2009 Oct 30;122(1305):41-6. PMID: 19966877

Prognosis

Epstein Syndrome.
Barrah S, Kheder R, Jebali H, Krid M, Smaoui W, Beji S, Hmida FB, Fatma LB, Rais L, Zouaghi MK
Saudi J Kidney Dis Transpl 2020 Jul-Aug;31(4):865-867. doi: 10.4103/1319-2442.292323. PMID: 32801250
Neuromuscular Mimics of Entrapment Neuropathies of Upper Extremities.
Gilchrist JM, Dandapat S
Hand (N Y) 2020 Sep;15(5):599-607. Epub 2020 Feb 5 doi: 10.1177/1558944719898801. PMID: 32020820Free PMC Article
Hereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzle.
Broccolini A, Gidaro T, Morosetti R, Sancricca C, Mirabella M
Acta Myol 2011 Oct;30(2):91-5. PMID: 22106710Free PMC Article
Neuromuscular disorders in left ventricular hypertrabeculation/noncompaction.
Finsterer J, Stöllberger C, Fazio G
Curr Pharm Des 2010;16(26):2895-904. doi: 10.2174/138161210793176437. PMID: 20632953
Familial mutations and the thermodynamic stability of the recombinant human prion protein.
Swietnicki W, Petersen RB, Gambetti P, Surewicz WK
J Biol Chem 1998 Nov 20;273(47):31048-52. doi: 10.1074/jbc.273.47.31048. PMID: 9813003

Clinical prediction guides

Deciphering the clinical spectrum of gastric disease in patients with juvenile polyposis syndrome.
Muller M, Baldysiak E, Benech N, Pioche M, Hervieu V, Calavas L, Tusseau M, Dupuis-Girod S, Saurin JC
Gastrointest Endosc 2024 Nov;100(5):867-877. Epub 2024 May 20 doi: 10.1016/j.gie.2024.05.015. PMID: 38777277
Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy.
Broccolini A, Gidaro T, Tasca G, Morosetti R, Rodolico C, Ricci E, Mirabella M
Neurology 2010 Jul 20;75(3):265-72. doi: 10.1212/WNL.0b013e3181e8e8f1. PMID: 20644153
Familial mutations and the thermodynamic stability of the recombinant human prion protein.
Swietnicki W, Petersen RB, Gambetti P, Surewicz WK
J Biol Chem 1998 Nov 20;273(47):31048-52. doi: 10.1074/jbc.273.47.31048. PMID: 9813003
Hereditary types of thrombocytopenia with giant platelets and inclusion bodies in the leukocytes.
Greinacher A, Mueller-Eckhardt C
Blut 1990 Feb;60(2):53-60. doi: 10.1007/BF01720508. PMID: 2154271
Congenital macrothrombocytopenia, leucocyte inclusions, deafness and proteinuria: functional and electron microscopic observations on platelets and megakaryocytes.
Heynen MJ, Blockmans D, Verwilghen RL, Vermylen J
Br J Haematol 1988 Dec;70(4):441-8. doi: 10.1111/j.1365-2141.1988.tb02514.x. PMID: 2851314

Recent systematic reviews

Beta-blockers for preventing aortic dissection in Marfan syndrome.
Koo HK, Lawrence KA, Musini VM
Cochrane Database Syst Rev 2017 Nov 7;11(11):CD011103. doi: 10.1002/14651858.CD011103.pub2. PMID: 29110304Free PMC Article
Measurement of psychological factors associated with genetic testing for hereditary breast, ovarian and colon cancers.
Vadaparampil ST, Ropka M, Stefanek ME
Fam Cancer 2005;4(2):195-206. doi: 10.1007/s10689-004-1446-7. PMID: 15951974

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