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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

Laser Treatment of Burn Scars.
Altemir A, Boixeda P
Actas Dermosifiliogr 2022 Nov-Dec;113(10):938-944. Epub 2022 Aug 11 doi: 10.1016/j.ad.2022.06.018. PMID: 35963335
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
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
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
Novel FHL1 mutations in fatal and benign reducing body myopathy.
Shalaby S, Hayashi YK, Nonaka I, Noguchi S, Nishino I
Neurology 2009 Jan 27;72(4):375-6. doi: 10.1212/01.wnl.0000341311.84347.a0. PMID: 19171836

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
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.
Uruha A, Hayashi YK, Oya Y, Mori-Yoshimura M, Kanai M, Murata M, Kawamura M, Ogata K, Matsumura T, Suzuki S, Takahashi Y, Kondo T, Kawarabayashi T, Ishii Y, Kokubun N, Yokoi S, Yasuda R, Kira J, Mitsuhashi S, Noguchi S, Nonaka I, Nishino I
J Neurol Neurosurg Psychiatry 2015 May;86(5):483-9. Epub 2014 Sep 24 doi: 10.1136/jnnp-2014-309009. PMID: 25253871
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
Familial reducing body myopathy.
Ohsawa M, Liewluck T, Ogata K, Iizuka T, Hayashi Y, Nonaka I, Sasaki M, Nishino I
Brain Dev 2007 Mar;29(2):112-6. Epub 2006 Aug 21 doi: 10.1016/j.braindev.2006.06.010. PMID: 16919903

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
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.
Uruha A, Hayashi YK, Oya Y, Mori-Yoshimura M, Kanai M, Murata M, Kawamura M, Ogata K, Matsumura T, Suzuki S, Takahashi Y, Kondo T, Kawarabayashi T, Ishii Y, Kokubun N, Yokoi S, Yasuda R, Kira J, Mitsuhashi S, Noguchi S, Nonaka I, Nishino I
J Neurol Neurosurg Psychiatry 2015 May;86(5):483-9. Epub 2014 Sep 24 doi: 10.1136/jnnp-2014-309009. PMID: 25253871
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
New observations in reducing body myopathy.
Carpenter S, Karpati G, Holland P
Neurology 1985 Jun;35(6):818-27. doi: 10.1212/wnl.35.6.818. PMID: 4000482

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