MCID: RDC010
MIFTS: 30

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 52 58 36
Myopathy, Reducing Body 39
Reducing-Body Myopathy 71

Characteristics:

Orphanet epidemiological data:

58
reducing body myopathy
Inheritance: Not applicable,X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood,Infancy; Age of death: early childhood;

Classifications:

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

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 reducing body myopathy 1a 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 Dilated cardiomyopathy (DCM). 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 70)
# Related Disease Score Top Affiliating Genes
1 reducing body myopathy 1a 33.2 TTN NEB FHL1
2 emery-dreifuss muscular dystrophy 29.9 FHL1 DMD DES
3 rigid spine muscular dystrophy 1 29.3 TTN FHL1 DMD
4 scoliosis 29.3 TTN FHL1 DMD
5 respiratory failure 29.2 TTN FHL1 DMD
6 foot drop 29.2 TTN NEB FHL1
7 muscular disease 28.8 TTN NEB DMD
8 hypertrophic cardiomyopathy 28.6 TTN FHL1 DMD DES
9 myopathy 28.5 TTN NEB FHL1 DNAH8 DMD DES
10 neuromuscular disease 28.3 TTN NEB DMD DES
11 muscular dystrophy 28.3 TTN NEB FHL1 DMD DES
12 myopathy, congenital 28.2 TTN NEB DNAH8 DMD
13 reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset 12.9
14 reducing body myopathy, x-linked 1b, with late childhood or adult onset 12.8
15 reducing body myopathy 1b 12.5
16 extracardiac rhabdomyoma 10.2 DMD DES
17 progressive muscular dystrophy 10.2 FHL1 DMD
18 cytoplasmic body myopathy 10.2 DMD DES
19 autosomal dominant distal myopathy 10.1 DMD DES
20 microcolon 10.1 DMD DES
21 megacystis-microcolon-intestinal hypoperistalsis syndrome 10.0 DMD DES
22 scapuloperoneal syndrome, neurogenic, kaeser type 10.0 NEB DES
23 hemophagocytic lymphohistiocytosis, familial, 1 10.0 FHL1 DMD
24 central core disease of muscle 10.0 NEB DES
25 myopathy, spheroid body 10.0 NEB DES
26 hypotonia 10.0
27 werdnig-hoffman disease 9.9 TTN DES
28 scapuloperoneal myopathy, x-linked dominant 9.8
29 orthostatic intolerance 9.8
30 scapuloperoneal myopathy 9.8
31 mumps 9.8
32 dysphagia 9.8
33 muscular dystrophy, limb-girdle, autosomal recessive 7 9.8 TTN DMD
34 muscular dystrophy, limb-girdle, autosomal recessive 6 9.8 TTN DMD
35 autosomal recessive limb-girdle muscular dystrophy type 2a 9.8 TTN DMD
36 autosomal recessive limb-girdle muscular dystrophy type 2d 9.8 TTN DMD
37 cardiomyopathy, familial hypertrophic, 4 9.8 TTN DMD
38 muscle hypertrophy 9.8 TTN FHL1
39 myopathy, myofibrillar, 3 9.7 TTN DMD
40 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.7 TTN DMD
41 atrioventricular block 9.7 TTN DES
42 bethlem myopathy 1 9.7 NEB DMD
43 isolated elevated serum creatine phosphokinase levels 9.7 TTN DMD
44 hyaline body myopathy 9.7 TTN NEB
45 myopathy, myofibrillar, 9, with early respiratory failure 9.7 TTN NEB
46 cardiomyopathy, dilated, 1e 9.6 TTN DES
47 congenital structural myopathy 9.6 TTN NEB
48 familial isolated dilated cardiomyopathy 9.5 TTN DMD DES
49 primary cutaneous amyloidosis 9.5 TTN NEB
50 autosomal recessive limb-girdle muscular dystrophy 9.5 TTN DMD DES

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:

26
# 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:

45
# 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:

40
Skeletal Muscle

Publications for Reducing Body Myopathy

Articles related to Reducing Body Myopathy:

(show top 50) (show all 52)
# Title Authors PMID Year
1
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. 6 61
19181672 2009
2
Novel FHL1 mutations in fatal and benign reducing body myopathy. 6 61
19171836 2009
3
Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1). 61 6
18952429 2008
4
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. 6 61
18274675 2008
5
Familial reducing body myopathy. 6 61
16919903 2007
6
Fatal reducing body myopathy. Ultrastructural and immunohistochemical observations. 6 61
7722535 1995
7
FHL1-mutated reducing body myopathy. 61
31803991 2020
8
FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy. 61
32001145 2020
9
[Childhood reducing body myopathy caused by FHL1 gene variation in a child]. 61
32102154 2020
10
FHL1-related clinical, muscle MRI and genetic features in six Chinese patients with reducing body myopathy. 61
31273321 2019
11
Concurrent positive anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase antibody with reducing body myopathy: Possible double trouble. 61
31204143 2019
12
Gluteus maximus hypertrophy: A diagnostic clue in four and a half LIM domain 1-mutated reducing body myopathy. 61
28694073 2017
13
Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion. 61
27409453 2016
14
X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene. 61
25246303 2015
15
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure. 61
25253871 2015
16
Fhl1 W122S causes loss of protein function and late-onset mild myopathy. 61
25274776 2015
17
A case of adult-onset reducing body myopathy presenting a novel clinical feature, asymmetrical involvement of the sternocleidomastoid and trapezius muscles. 61
24928078 2014
18
FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation. 61
24634512 2014
19
Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene. 61
25191266 2014
20
Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice. 61
23975679 2014
21
Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders. 61
23965743 2013
22
Novel FHL1 mutation in a family with reducing body myopathy. 61
23169582 2013
23
[Myofibrillar myopaathy]. 61
24291893 2013
24
Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: an imaging study using computed tomography. 61
22541254 2012
25
Protein aggregation in congenital myopathies. 61
22172423 2011
26
Reducing body myopathy and other FHL1-related muscular disorders. 61
22172421 2011
27
Christianson syndrome in a patient with an interstitial Xq26.3 deletion. 61
21932316 2011
28
A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients. 61
21683594 2011
29
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
30
Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1. 61
20571991 2010
31
Muscle MRI in FHL1-linked reducing body myopathy. 61
19616434 2009
32
SLIMMER (FHL1B/KyoT3) interacts with the proapoptotic protein Siva-1 (CD27BP) and delays skeletal myoblast apoptosis. 61
19643733 2009
33
Consequences of mutations within the C terminus of the FHL1 gene. 61
19687455 2009
34
Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy. 61
19075112 2008
35
Unfolded protein response and aggresome formation in hereditary reducing-body myopathy. 61
17099882 2007
36
Delayed or late-onset type II glycogenosis with globular inclusions. 61
15986226 2005
37
Ultrastructural detection of DNA fragmentation in myonuclei of fatal reducing body myopathy. 61
14986028 2004
38
Nucleolar characteristics of reducing bodies in reducing body myopathy. 61
14735304 2004
39
Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy. 61
11571700 2001
40
[Reducing body myopathy]. 61
11555975 2001
41
Adult onset reducing body myopathy. 61
10619716 1999
42
Familial mixed congenital myopathy with rigid spine phenotype. 61
9121497 1997
43
Reducing bodies in distal myopathy with rimmed vacuole formation. 61
7709723 1995
44
Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings. 61
8140891 1994
45
A unique case of reducing body myopathy. 61
1314327 1992
46
[Reducing body myopathy--a case report]. 61
1321016 1992
47
New observations in reducing body myopathy. 61
4000482 1985
48
A benign form of reducing body myopathy. 61
6306460 1983
49
[Granular body myopathy (so-called reducing body myopathy)]. 61
7088899 1982
50
[Reducing body myopathy--ultrastructure and classification (author's transl)]. 61
6269277 1981

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 cytosol GO:0005829 9.91 TUBG1 TTN NEB FHL1 DMD DES
2 cytoplasm GO:0005737 9.91 TUBG1 TTN NEB FHL1 DNAH8 DMD
3 sarcolemma GO:0042383 9.46 DMD DES
4 sarcomere GO:0030017 9.4 TTN NEB
5 cytoskeleton GO:0005856 9.35 TUBG1 NEB DNAH8 DMD DES
6 myofibril GO:0030016 9.32 NEB DMD
7 condensed nuclear chromosome GO:0000794 9.26 TUBG1 TTN
8 contractile fiber GO:0043292 9.16 NEB DES
9 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 structural constituent of cytoskeleton GO:0005200 9.13 TUBG1 DMD DES
2 structural constituent of muscle GO:0008307 8.8 TTN NEB DMD

Sources for Reducing Body Myopathy

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63 QIAGEN
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70 Tocris
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72 UMLS via Orphanet
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