Reducing Body Myopathy

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Reducing Body Myopathy

MalaCards integrated aliases for Reducing Body Myopathy:

Name: Reducing Body Myopathy 20 58 36
Myopathy, Reducing Body 39
Reducing-Body Myopathy 71


Orphanet epidemiological data:

reducing body myopathy
Inheritance: Not applicable,X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood,Infancy; Age of death: early childhood;


Orphanet: 58  
Rare neurological diseases

External Ids:

KEGG 36 H00657
ICD10 via Orphanet 33 G71.2
UMLS via Orphanet 72 C0270970
Orphanet 58 ORPHA97239
UMLS 71 C0270970

Summaries for Reducing Body Myopathy

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 97239DefinitionReducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.EpidemiologyThe prevalence is unknown: although some sporadic cases have been described, only four families with RBM have been reported in the literature so far.Clinical descriptionThe age of onset, speed of progression and severity of the disease vary significantly between patients, even between affected members of the same family. Although early development is generally normal (up to 2 years of age), onset during infancy or early childhood appears to be associated with severe myopathy, hypotonia and rapidly progressive muscle weakness leading to death due to respiratory insufficiency within the first five years of life. Onset during childhood or adulthood is characterised by mainly proximal muscle weakness, a rigid spine syndrome and a slowly progressive disease course.EtiologyBoth sporadic and familial cases of RBM are caused by mutations in the gene encoding the four-and-a-half LIM domain 1 protein (FHL1; Xq27.2).Diagnostic methodsAs the clinical picture is highly variable (EMG reveals mixed myogenic patterns), diagnosis relies on recognition of the typical histopathological findings at muscle biopsy: the non-membrane-bound inclusions reduce nitro-blue tetrazolium (hence the name `reducing body myopathy') and are located in the cytoplasm, usually close to the degenerating nucleus. Electron microscopy reveals that the inclusions consist of a fine granular material and immunohistochemical analysis reveals the presence of aggresome-like proteins.Differential diagnosisThe differential diagnosis should include other disorders with reducing bodies (e.g. acid maltase deficiency) and other congenital myopathies in familial cases (see these terms). Sarcotubular myopathy may also be considered in patients with less severe forms of the disease.Genetic counselingThe mode of transmission remains unclear. There are no reports of male-to-male transmission in familial cases and cases of severely affected females have been reported. X-linked dominant, semi-dominant and recessive inheritance have been suggested and skewed X-inactivation has not been excluded.Management and treatmentManagement is supportive and should be multidisciplinary (involving a neurologist, orthopaedic surgeon and physical therapist).PrognosisThe prognosis is generally severe: disease progression results in loss of ambulation, and death due to respiratory failure occurs even in patients with later-onset slowly progressive forms of the disease.Visit the Orphanet disease page for more resources.

MalaCards based summary : Reducing Body Myopathy, also known as myopathy, reducing body, is related to dysphagia and scoliosis. An important gene associated with Reducing Body Myopathy is FHL1 (Four And A Half LIM Domains 1), and among its related pathways/superpathways are Cardiac conduction and Dilated cardiomyopathy. Affiliated tissues include skeletal muscle, and related phenotypes are Decreased HPV16-GFP infection and muscle

KEGG : 36 Reducing body myopathy (RBM) is a rare, sometimes fatal, X-linked disorder characterized by progressive muscle weakness and the presence of intracytoplasmic aggregates in histological muscle sections which exert a reducing activity on nitro-blue tetrazolium (NBT) staining. The causative gene for RBM is FHL1 encoding four and a half LIM domains.

Related Diseases for Reducing Body Myopathy

Diseases in the Reducing Body Myopathy family:

Reducing Body Myopathy 1a Reducing Body Myopathy 1b

Diseases related to Reducing Body Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 dysphagia 29.9 NEB DES
2 scoliosis 29.8 TTN FHL1 DMD
3 rigid spine muscular dystrophy 1 29.7 TTN FHL1 DMD
4 foot drop 29.6 TTN NEB FHL1
5 emery-dreifuss muscular dystrophy 29.5 TTN FHL1 DMD DES
6 respiratory failure 29.4 TTN FHL1 DMD
7 neuromuscular disease 29.4 TTN DMD DES
8 myopathy 29.3 TTN NEB FHL1 DNAH8 DMD DES
9 muscular disease 29.3 TTN NEB DMD
10 hypertrophic cardiomyopathy 29.1 TTN FHL1 DMD DES
11 muscular dystrophy 29.0 TTN NEB FHL1 DMD DES
12 batten-turner congenital myopathy 28.5 TTN NEB DNAH8 DMD DES
13 reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset 11.7
14 reducing body myopathy, x-linked 1b, with late childhood or adult onset 11.7
15 reducing body myopathy 1a 11.3
16 reducing body myopathy 1b 11.3
17 progressive muscular dystrophy 10.1 FHL1 DMD
18 extracardiac rhabdomyoma 10.1 DMD DES
19 cytoplasmic body myopathy 10.1 DMD DES
20 autosomal dominant distal myopathy 10.1 DMD DES
21 microcolon 10.1 DMD DES
22 scapuloperoneal myopathy 10.1
23 hypotonia 10.1
24 megacystis-microcolon-intestinal hypoperistalsis syndrome 10.0 DMD DES
25 central core disease of muscle 10.0 NEB DES
26 myopathy, spheroid body 10.0 NEB DES
27 hemophagocytic lymphohistiocytosis, familial, 1 10.0 FHL1 DMD
28 scapuloperoneal myopathy, x-linked dominant 9.9
29 orthostatic intolerance 9.9
30 mumps 9.9
31 autosomal recessive limb-girdle muscular dystrophy type 2g 9.9 TTN DES
32 muscular dystrophy, limb-girdle, autosomal recessive 7 9.9 TTN DMD
33 muscular dystrophy, limb-girdle, autosomal recessive 6 9.9 TTN DMD
34 autosomal recessive limb-girdle muscular dystrophy type 2a 9.9 TTN DMD
35 myopathy, myofibrillar, 3 9.9 TTN DMD
36 cardiomyopathy, familial hypertrophic, 4 9.9 TTN DMD
37 bethlem myopathy 1 9.9 NEB DMD
38 cardiomyopathy, dilated, 1h 9.9 TTN DES
39 nonaka myopathy 9.8 TTN DMD
40 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.8 TTN DMD
41 atrioventricular block 9.8 TTN DES
42 isolated elevated serum creatine phosphokinase levels 9.8 TTN DMD
43 hyaline body myopathy 9.8 TTN NEB
44 multiple pterygium syndrome, escobar variant 9.8 NEB DMD
45 myopathy, myofibrillar, 5 9.8 TTN DMD
46 congenital structural myopathy 9.8 TTN NEB
47 myopathy, myofibrillar, 9, with early respiratory failure 9.8 TTN NEB
48 primary cutaneous amyloidosis 9.7 TTN NEB
49 muscle hypertrophy 9.7 TTN FHL1 DMD
50 intrinsic cardiomyopathy 9.7 TTN DMD

Graphical network of the top 20 diseases related to Reducing Body Myopathy:

Diseases related to Reducing Body Myopathy

Symptoms & Phenotypes for Reducing Body Myopathy

GenomeRNAi Phenotypes related to Reducing Body Myopathy according to GeneCards Suite gene sharing:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased HPV16-GFP infection GR00350-A 8.62 DES NEB

MGI Mouse Phenotypes related to Reducing Body Myopathy:

# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 DES DMD FHL1 NEB TTN

Drugs & Therapeutics for Reducing Body Myopathy

Search Clinical Trials , NIH Clinical Center for Reducing Body Myopathy

Genetic Tests for Reducing Body Myopathy

Anatomical Context for Reducing Body Myopathy

MalaCards organs/tissues related to Reducing Body Myopathy:

Skeletal Muscle

Publications for Reducing Body Myopathy

Articles related to Reducing Body Myopathy:

(show top 50) (show all 52)
# Title Authors PMID Year
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. 61 6
19181672 2009
Novel FHL1 mutations in fatal and benign reducing body myopathy. 61 6
19171836 2009
Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1). 61 6
18952429 2008
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. 61 6
18274675 2008
Familial reducing body myopathy. 61 6
16919903 2007
Fatal reducing body myopathy. Ultrastructural and immunohistochemical observations. 61 6
7722535 1995
FHL1-mutated reducing body myopathy. 61
31803991 2020
FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy. 61
32001145 2020
[Childhood reducing body myopathy caused by FHL1 gene variation in a child]. 61
32102154 2020
FHL1-related clinical, muscle MRI and genetic features in six Chinese patients with reducing body myopathy. 61
31273321 2019
Concurrent positive anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase antibody with reducing body myopathy: Possible double trouble. 61
31204143 2019
Gluteus maximus hypertrophy: A diagnostic clue in four and a half LIM domain 1-mutated reducing body myopathy. 61
28694073 2017
Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion. 61
27409453 2016
X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene. 61
25246303 2015
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure. 61
25253871 2015
Fhl1 W122S causes loss of protein function and late-onset mild myopathy. 61
25274776 2015
A case of adult-onset reducing body myopathy presenting a novel clinical feature, asymmetrical involvement of the sternocleidomastoid and trapezius muscles. 61
24928078 2014
FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation. 61
24634512 2014
Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene. 61
25191266 2014
Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice. 61
23975679 2014
Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders. 61
23965743 2013
Novel FHL1 mutation in a family with reducing body myopathy. 61
23169582 2013
[Myofibrillar myopaathy]. 61
24291893 2013
Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: an imaging study using computed tomography. 61
22541254 2012
Protein aggregation in congenital myopathies. 61
22172423 2011
Reducing body myopathy and other FHL1-related muscular disorders. 61
22172421 2011
Christianson syndrome in a patient with an interstitial Xq26.3 deletion. 61
21932316 2011
A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients. 61
21683594 2011
Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features. 61
21310615 2011
Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1. 61
20571991 2010
Muscle MRI in FHL1-linked reducing body myopathy. 61
19616434 2009
SLIMMER (FHL1B/KyoT3) interacts with the proapoptotic protein Siva-1 (CD27BP) and delays skeletal myoblast apoptosis. 61
19643733 2009
Consequences of mutations within the C terminus of the FHL1 gene. 61
19687455 2009
Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy. 61
19075112 2008
Unfolded protein response and aggresome formation in hereditary reducing-body myopathy. 61
17099882 2007
Delayed or late-onset type II glycogenosis with globular inclusions. 61
15986226 2005
Ultrastructural detection of DNA fragmentation in myonuclei of fatal reducing body myopathy. 61
14986028 2004
Nucleolar characteristics of reducing bodies in reducing body myopathy. 61
14735304 2004
Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy. 61
11571700 2001
[Reducing body myopathy]. 61
11555975 2001
Adult onset reducing body myopathy. 61
10619716 1999
Familial mixed congenital myopathy with rigid spine phenotype. 61
9121497 1997
Reducing bodies in distal myopathy with rimmed vacuole formation. 61
7709723 1995
Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings. 61
8140891 1994
A unique case of reducing body myopathy. 61
1314327 1992
[Reducing body myopathy--a case report]. 61
1321016 1992
New observations in reducing body myopathy. 61
4000482 1985
A benign form of reducing body myopathy. 61
6306460 1983
[Granular body myopathy (so-called reducing body myopathy)]. 61
7088899 1982
[Reducing body myopathy--ultrastructure and classification (author's transl)]. 61
6269277 1981

Variations for Reducing Body Myopathy

ClinVar genetic disease variations for Reducing Body Myopathy:

# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FHL1 NM_001159699.2(FHL1):c.415C>T (p.His139Tyr) SNV Pathogenic 11550 rs122458142 X:135289986-135289986 X:136207827-136207827
2 FHL1 NM_001159699.2(FHL1):c.443G>T (p.Cys148Phe) SNV Pathogenic 11551 rs122458143 X:135290014-135290014 X:136207855-136207855
3 FHL1 NM_001159699.2(FHL1):c.505T>C (p.Cys169Arg) SNV Pathogenic 11552 rs122458144 X:135290076-135290076 X:136207917-136207917
4 FHL1 NM_001159699.2(FHL1):c.506G>A (p.Cys169Tyr) SNV Pathogenic 11553 rs122458145 X:135290077-135290077 X:136207918-136207918
5 FHL1 NM_001159699.2(FHL1):c.497G>A (p.Cys166Tyr) SNV Pathogenic 11554 rs122459146 X:135290068-135290068 X:136207909-136207909
6 FHL1 NM_001159699.2(FHL1):c.358T>C (p.Cys120Arg) SNV Pathogenic 11555 rs122459147 X:135289328-135289328 X:136207169-136207169
7 FHL1 NM_001159699.2(FHL1):c.416A>T (p.His139Leu) SNV Pathogenic 11561 rs267606812 X:135289987-135289987 X:136207828-136207828
8 FHL1 NM_001159699.2(FHL1):c.417C>G (p.His139Gln) SNV Pathogenic 11562 rs267606813 X:135289988-135289988 X:136207829-136207829
9 FHL1 FHL1, 9-BP DEL, NT451 Deletion Pathogenic 11563
10 FHL1 NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg) SNV Likely pathogenic 689729 rs1603271659 X:135290067-135290067 X:136207908-136207908

Expression for Reducing Body Myopathy

Search GEO for disease gene expression data for Reducing Body Myopathy.

Pathways for Reducing Body Myopathy

GO Terms for Reducing Body Myopathy

Cellular components related to Reducing Body Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.91 TUBG1 TTN NEB FHL1 DNAH8 DMD
2 cytosol GO:0005829 9.88 TUBG1 TTN NEB FHL1 DMD DES
3 cytoskeleton GO:0005856 9.55 TUBG1 NEB DNAH8 DMD DES
4 myofibril GO:0030016 9.32 NEB DMD
5 condensed nuclear chromosome GO:0000794 9.26 TUBG1 TTN
6 contractile fiber GO:0043292 8.96 NEB DES
7 Z disc GO:0030018 8.92 TTN NEB DMD DES

Biological processes related to Reducing Body Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.32 TTN DES
2 cardiac muscle contraction GO:0060048 9.26 TTN DMD
3 muscle fiber development GO:0048747 9.16 NEB DMD
4 muscle organ development GO:0007517 9.13 NEB FHL1 DMD
5 muscle filament sliding GO:0030049 8.92 TTN NEB DMD DES

Molecular functions related to Reducing Body Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.33 TTN NEB DMD
2 structural constituent of cytoskeleton GO:0005200 9.13 TUBG1 DMD DES
3 structural constituent of muscle GO:0008307 8.8 TTN NEB DMD

Sources for Reducing Body Myopathy

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
70 Tocris
72 UMLS via Orphanet
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