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Reducing body myopathy

MedGen UID:
543081
•Concept ID:
C0270970
•
Disease or Syndrome
Synonyms: reducing body myopathy; Reducing-body myopathy
SNOMED CT: Reducing-body myopathy (42779002)
Modes of inheritance:
X-linked dominant inheritance
MedGen UID:
376232
•Concept ID:
C1847879
•
Finding
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
See: This record
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
X-linked dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0019948
Orphanet: ORPHA97239

Definition

Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReducing body myopathy
Follow this link to review classifications for Reducing body myopathy in Orphanet.

Professional guidelines

PubMed

Achilles Tendinopathy: Pathophysiology, Epidemiology, Diagnosis, Treatment, Prevention, and Screening.
Knapik JJ, Pope R
J Spec Oper Med 2020 Spring;20(1):125-140. doi: 10.55460/QXTX-A72P. PMID: 32203618
Current diagnosis and treatment of polymyositis and dermatomyositis.
Sasaki H, Kohsaka H
Mod Rheumatol 2018 Nov;28(6):913-921. Epub 2018 May 9 doi: 10.1080/14397595.2018.1467257. PMID: 29669460
Delayed onset muscle soreness : treatment strategies and performance factors.
Cheung K, Hume P, Maxwell L
Sports Med 2003;33(2):145-64. doi: 10.2165/00007256-200333020-00005. PMID: 12617692

Recent clinical studies

Etiology

Reducing body myopathy - A new pathogenic FHL1 variant and literature review.
Mota IA, Correia CDC, Fontana PN, Carvalho AAS
Neuromuscul Disord 2021 Sep;31(9):847-853. Epub 2021 Apr 15 doi: 10.1016/j.nmd.2021.03.013. PMID: 34366191
FHL1-related clinical, muscle MRI and genetic features in six Chinese patients with reducing body myopathy.
Hu Z, Zhu Y, Liu X, Zhang W, Liu J, Wu S, Xiao J, Yuan Y, Wang Z
J Hum Genet 2019 Sep;64(9):919-926. Epub 2019 Jul 4 doi: 10.1038/s10038-019-0627-z. PMID: 31273321
Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.
Malfatti E, Olivé M, Taratuto AL, Richard P, Brochier G, Bitoun M, Gueneau L, Laforêt P, Stojkovic T, Maisonobe T, Monges S, Lubieniecki F, Vasquez G, Streichenberger N, Lacène E, Saccoliti M, Prudhon B, Alexianu M, Figarella-Branger D, Schessl J, Bonnemann C, Eymard B, Fardeau M, Bonne G, Romero NB
J Neuropathol Exp Neurol 2013 Sep;72(9):833-45. doi: 10.1097/NEN.0b013e3182a23506. PMID: 23965743Free PMC Article
A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.
Waddell LB, Tran J, Zheng XF, Bönnemann CG, Hu Y, Evesson FJ, Lek M, Arbuckle S, Wang MX, Smith RL, North KN, Clarke NF
Neuromuscul Disord 2011 Nov;21(11):776-81. Epub 2011 Jun 17 doi: 10.1016/j.nmd.2011.05.007. PMID: 21683594Free PMC Article

Diagnosis

A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy.
Mohassel P, Yun P, Syeda S, Batra A, Bradley AJ, Donkervoort S, Monges S, Cohen JS, Leung DG, Munell F, Ortez C, Sánchez-Montáñez A, Karachunski P, Brandsema J, Medne L, Chaudhry V, Tasca G, Foley AR, Udd B, Arai AE, Walter GA, Bönnemann CG
Ann Clin Transl Neurol 2023 Aug;10(8):1442-1455. Epub 2023 Jul 22 doi: 10.1002/acn3.51834. PMID: 37483011Free PMC Article
Reducing body myopathy - A new pathogenic FHL1 variant and literature review.
Mota IA, Correia CDC, Fontana PN, Carvalho AAS
Neuromuscul Disord 2021 Sep;31(9):847-853. Epub 2021 Apr 15 doi: 10.1016/j.nmd.2021.03.013. PMID: 34366191
Clinical and genetic characteristics of Chinese patients with reducing body myopathy.
Chen L, Lin HX, Yang XX, Chen DF, Dong HL, Yu H, Liu GL, Wu ZY
Neuromuscul Disord 2021 May;31(5):442-449. Epub 2021 Feb 12 doi: 10.1016/j.nmd.2021.02.009. PMID: 33846077
FHL1-mutated reducing body myopathy.
Lim KY, Kim HH, Sung JJ, Oh BM, Kim K, Park SH
Neuropathology 2020 Apr;40(2):185-190. Epub 2019 Dec 5 doi: 10.1111/neup.12619. PMID: 31803991
Reducing body myopathy and other FHL1-related muscular disorders.
Schessl J, Feldkirchner S, Kubny C, Schoser B
Semin Pediatr Neurol 2011 Dec;18(4):257-63. doi: 10.1016/j.spen.2011.10.007. PMID: 22172421

Therapy

FHL1-related clinical, muscle MRI and genetic features in six Chinese patients with reducing body myopathy.
Hu Z, Zhu Y, Liu X, Zhang W, Liu J, Wu S, Xiao J, Yuan Y, Wang Z
J Hum Genet 2019 Sep;64(9):919-926. Epub 2019 Jul 4 doi: 10.1038/s10038-019-0627-z. PMID: 31273321
Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy.
Maerkens A, Kley RA, Olivé M, Theis V, van der Ven PF, Reimann J, Milting H, Schreiner A, Uszkoreit J, Eisenacher M, Barkovits K, Güttsches AK, Tonillo J, Kuhlmann K, Meyer HE, Schröder R, Tegenthoff M, Fürst DO, Müller T, Goldfarb LG, Vorgerd M, Marcus K
J Proteomics 2013 Sep 2;90:14-27. Epub 2013 Apr 30 doi: 10.1016/j.jprot.2013.04.026. PMID: 23639843Free PMC Article

Prognosis

Reducing body myopathy - A new pathogenic FHL1 variant and literature review.
Mota IA, Correia CDC, Fontana PN, Carvalho AAS
Neuromuscul Disord 2021 Sep;31(9):847-853. Epub 2021 Apr 15 doi: 10.1016/j.nmd.2021.03.013. PMID: 34366191
FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy.
Chen T, Lu X, Shi Q, Guo J, Wang H, Wang Q, Yin X, Zhang Y, Pu C, Zhou D
Neuromuscul Disord 2020 Feb;30(2):165-172. Epub 2019 Nov 28 doi: 10.1016/j.nmd.2019.11.011. PMID: 32001145
Concurrent positive anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase antibody with reducing body myopathy: Possible double trouble.
Tanboon J, Sanmaneechai O, Charuvanij S, Sangruchi T, Galindo-Feria AS, Lundberg IE, Ohnuki Y, Shiina T, Suzuki S, Nishino I
Neuromuscul Disord 2019 Jul;29(7):543-548. Epub 2019 May 23 doi: 10.1016/j.nmd.2019.05.007. PMID: 31204143
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.
Schessl J, Taratuto AL, Sewry C, Battini R, Chin SS, Maiti B, Dubrovsky AL, Erro MG, Espada G, Robertella M, Saccoliti M, Olmos P, Bridges LR, Standring P, Hu Y, Zou Y, Swoboda KJ, Scavina M, Goebel HH, Mitchell CA, Flanigan KM, Muntoni F, Bönnemann CG
Brain 2009 Feb;132(Pt 2):452-64. Epub 2009 Jan 29 doi: 10.1093/brain/awn325. PMID: 19181672Free PMC Article
Adult onset reducing body myopathy.
Figarella-Branger D, Putzu GA, Bouvier-Labit C, Pouget J, Chateau D, Fardeau M, Pellissier JF
Neuromuscul Disord 1999 Dec;9(8):580-6. doi: 10.1016/s0960-8966(99)00058-9. PMID: 10619716

Clinical prediction guides

FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy.
Chen T, Lu X, Shi Q, Guo J, Wang H, Wang Q, Yin X, Zhang Y, Pu C, Zhou D
Neuromuscul Disord 2020 Feb;30(2):165-172. Epub 2019 Nov 28 doi: 10.1016/j.nmd.2019.11.011. PMID: 32001145
Fhl1 W122S causes loss of protein function and late-onset mild myopathy.
Emmanuele V, Kubota A, Garcia-Diaz B, Garone C, Akman HO, Sánchez-Gutiérrez D, Escudero LM, Kariya S, Homma S, Tanji K, Quinzii CM, Hirano M
Hum Mol Genet 2015 Feb 1;24(3):714-26. Epub 2014 Sep 30 doi: 10.1093/hmg/ddu490. PMID: 25274776Free PMC Article
Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.
Malfatti E, Olivé M, Taratuto AL, Richard P, Brochier G, Bitoun M, Gueneau L, Laforêt P, Stojkovic T, Maisonobe T, Monges S, Lubieniecki F, Vasquez G, Streichenberger N, Lacène E, Saccoliti M, Prudhon B, Alexianu M, Figarella-Branger D, Schessl J, Bonnemann C, Eymard B, Fardeau M, Bonne G, Romero NB
J Neuropathol Exp Neurol 2013 Sep;72(9):833-45. doi: 10.1097/NEN.0b013e3182a23506. PMID: 23965743Free PMC Article
Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1.
Schessl J, Columbus A, Hu Y, Zou Y, Voit T, Goebel HH, Bönnemann CG
Neuropediatrics 2010 Feb;41(1):43-6. Epub 2010 Jun 22 doi: 10.1055/s-0030-1254101. PMID: 20571991
Adult onset reducing body myopathy.
Figarella-Branger D, Putzu GA, Bouvier-Labit C, Pouget J, Chateau D, Fardeau M, Pellissier JF
Neuromuscul Disord 1999 Dec;9(8):580-6. doi: 10.1016/s0960-8966(99)00058-9. PMID: 10619716

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