Reducing Body Myopathy

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Reducing Body Myopathy

MalaCards integrated aliases for Reducing Body Myopathy:

Name: Reducing Body Myopathy 12 52 58 36 15
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:

Disease Ontology 12 DOID:0080090
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

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97239 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. Epidemiology The prevalence is unknown: although some sporadic cases have been described, only four families with RBM have been reported in the literature so far. Clinical description The 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. Etiology Both 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 methods As 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 diagnosis The 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 counseling The 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 treatment Management is supportive and should be multidisciplinary (involving a neurologist , orthopaedic surgeon and physical therapist ). Prognosis The 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 foot drop and emery-dreifuss muscular dystrophy. 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 Striated Muscle Contraction. 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 related to Reducing Body Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 foot drop 30.5 TTN NEB FHL1
2 emery-dreifuss muscular dystrophy 30.4 FHL1 DMD DES
3 myopathy, congenital 29.9 TTN NEB DMD DES
4 respiratory failure 29.7 TTN KLHL40 FHL1 DMD
5 rigid spine muscular dystrophy 1 29.6 TTN MYOT FHL1 DMD BAG3
6 hypertrophic cardiomyopathy 29.2 TTN TCAP FHL1 DMD DES
7 neuromuscular disease 29.0 TTN TCAP MYOT DMD DES
8 scapuloperoneal myopathy 28.7 NRAP MYOT MAP7D3 LIM2 FHL1 ESCO2
9 muscular dystrophy 28.5 TTN TCAP NEB MYOT FHL1 DMD
10 myopathy 28.4 TTN TCAP NEB MYOT KLHL40 FHL1
11 muscular disease 27.5 TTN TCAP NEB MYOT KLHL40 DMD
12 reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset 12.9
13 reducing body myopathy, x-linked 1b, with late childhood or adult onset 12.8
14 progressive muscular dystrophy 10.4 FHL1 DMD
15 extracardiac rhabdomyoma 10.4 DMD DES
16 cytoplasmic body myopathy 10.4 DMD DES
17 microcolon 10.4 DMD DES
18 emery-dreifuss muscular dystrophy 7, autosomal dominant 10.3 FHL1 DMD
19 autosomal recessive limb-girdle muscular dystrophy type 2f 10.3 MYOT DMD
20 typical congenital nemaline myopathy 10.2 NEB CFL2
21 severe congenital nemaline myopathy 10.2 NEB KLHL40
22 central core disease of muscle 10.2 NEB MYOT DES
23 autosomal dominant distal myopathy 10.2 MYOT DMD DES
24 myopathy of extraocular muscle 10.2 MYOT DMD
25 muscular dystrophy, becker type 10.2 TTN MYOT DMD
26 scoliosis 10.2
27 cylindrical spirals myopathy 10.2 LIM2 CFL2
28 myopathy, myofibrillar, 2 10.1 MYOT BAG3
29 facioscapulohumeral muscular dystrophy 1 10.1 TTN MYOT DMD
30 cardioneuromyopathy with hyaline masses and nemaline rods 10.1 TTN NEB DMD DES
31 myopathy, myofibrillar, 6 10.1 MYOT BAG3
32 myositis 10.1 TTN NEB DMD
33 isolated elevated serum creatine phosphokinase levels 10.1 TCAP DMD
34 muscular dystrophy, congenital, lmna-related 10.1 TTN FHL1 DMD
35 muscular dystrophy, limb-girdle, autosomal recessive 8 10.1 TTN TCAP
36 creatine phosphokinase, elevated serum 10.1 TCAP DMD
37 cardiomyopathy, dilated, 1b 10.1 TTN BAG3
38 restrictive cardiomyopathy 10.0 TTN DNAH8 DMD DES
39 muscle tissue disease 10.0 TTN NEB MYOT DMD
40 autosomal recessive limb-girdle muscular dystrophy type 2q 10.0 TCAP MYOT
41 autosomal recessive limb-girdle muscular dystrophy type 2h 10.0 TCAP MYOT
42 muscular dystrophy, limb-girdle, autosomal recessive 6 10.0 TTN TCAP DMD
43 autosomal recessive limb-girdle muscular dystrophy type 2l 10.0 TCAP MYOT
44 hypotonia 10.0
45 muscular dystrophy, limb-girdle, autosomal dominant 2 10.0 TCAP MYOT
46 autosomal recessive limb-girdle muscular dystrophy type 2j 9.9 TTN TCAP MYOT
47 autosomal dominant limb-girdle muscular dystrophy 9.9 MYOT BAG3
48 autosomal recessive limb-girdle muscular dystrophy type 2g 9.9 TTN TCAP MYOT
49 autosomal recessive limb-girdle muscular dystrophy type 2d 9.9 TCAP MYOT DMD
50 autosomal recessive limb-girdle muscular dystrophy type 2c 9.9 TCAP MYOT 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 8.92 BAG3 DES NEB TUBG1

MGI Mouse Phenotypes related to Reducing Body Myopathy:

# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.32 BAG3 CFL2 DES DMD FHL1 KLHL40

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 51)
# 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 2019
FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy. 61
32001145 2019
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
Congenital myopathy with "reducing bodies" in muscle fibres. 61
1138529 1975

Variations for Reducing Body Myopathy

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 10.1 TUBG1 TTN TCAP NFATC1 NEB MYOT
2 cytoskeleton GO:0005856 9.76 TUBG1 NEB MYOT MAP7D3 DNAH8 DMD
3 sarcolemma GO:0042383 9.63 MYOT DMD DES
4 sarcomere GO:0030017 9.54 TTN TCAP NEB
5 myofibril GO:0030016 9.5 NRAP NEB DMD
6 contractile fiber GO:0043292 9.43 NEB DES
7 fascia adherens GO:0005916 9.4 NRAP DES
8 Z disc GO:0030018 9.28 TTN TCAP NRAP NEB MYOT DMD
9 I band GO:0031674 9.26 TTN TCAP KLHL40 CFL2

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.74 TTN MYOT DES
2 muscle organ development GO:0007517 9.71 NEB FHL1 DMD
3 cardiac muscle contraction GO:0060048 9.61 TTN TCAP DMD
4 response to muscle stretch GO:0035994 9.56 TCAP DMD
5 cardiac myofibril assembly GO:0055003 9.55 TTN TCAP
6 sarcomere organization GO:0045214 9.54 TTN TCAP CFL2
7 cardiac muscle tissue morphogenesis GO:0055008 9.52 TTN TCAP
8 cardiac muscle fiber development GO:0048739 9.51 TTN TCAP
9 cardiac muscle hypertrophy GO:0003300 9.49 TTN TCAP
10 skeletal muscle thin filament assembly GO:0030240 9.48 TTN TCAP
11 skeletal muscle myosin thick filament assembly GO:0030241 9.46 TTN TCAP
12 detection of muscle stretch GO:0035995 9.4 TTN TCAP
13 muscle cell cellular homeostasis GO:0046716 9.33 DMD CFL2 BAG3
14 cardiac muscle thin filament assembly GO:0071691 9.32 NRAP NEB
15 sarcomerogenesis GO:0048769 9.26 TTN TCAP
16 muscle fiber development GO:0048747 9.13 NRAP NEB DMD
17 muscle filament sliding GO:0030049 9.02 TTN TCAP NEB DMD DES

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.43 TUBG1 DMD DES
2 dynein intermediate chain binding GO:0045505 9.37 DNAH8 BAG3
3 muscle alpha-actinin binding GO:0051371 9.32 TTN NRAP
4 actin filament binding GO:0051015 9.26 TTN NRAP NEB CFL2
5 vinculin binding GO:0017166 9.16 NRAP DMD
6 structural constituent of muscle GO:0008307 9.02 TTN TCAP NEB MYOT 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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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