MCID: RDC010
MIFTS: 29

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 54 60 38 15
Myopathy, Reducing Body 41
Reducing-Body Myopathy 74

Characteristics:

Orphanet epidemiological data:

60
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: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080090
KEGG 38 H00657
ICD10 via Orphanet 35 G71.2
UMLS via Orphanet 75 C0270970
Orphanet 60 ORPHA97239
UMLS 74 C0270970

Summaries for Reducing Body Myopathy

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 97239Disease definitionReducing 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 myopathy and myopathy, congenital. 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 phenotype is muscle.

Related Diseases for Reducing Body Myopathy

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

(show all 29)
# Related Disease Score Top Affiliating Genes
1 myopathy 30.5 FHL1 NEB TTN
2 myopathy, congenital 29.6 DMD NEB
3 rigid spine muscular dystrophy 1 29.4 DMD FHL1 TTN
4 reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset 12.8
5 reducing body myopathy, x-linked 1b, with late childhood or adult onset 12.7
6 muscle disorders 10.3
7 foot drop 10.1 FHL1 NEB
8 scapuloperoneal myopathy 10.1 FHL1 MAP7D3
9 nemaline myopathy 2 10.1 NEB TTN
10 muscular dystrophy, limb-girdle, autosomal recessive 7 10.0 DMD TTN
11 muscular dystrophy, limb-girdle, autosomal recessive 6 10.0 DMD TTN
12 familial isolated dilated cardiomyopathy 10.0 DMD TTN
13 centronuclear myopathy 10.0 DMD TTN
14 intrinsic cardiomyopathy 10.0 DMD TTN
15 miyoshi muscular dystrophy 10.0 DMD TTN
16 muscular dystrophy, congenital, lmna-related 9.9 DMD TTN
17 muscle tissue disease 9.9 DMD NEB
18 neuromuscular disease 9.9 DMD TTN
19 myositis 9.9 DMD TTN
20 atrial standstill 1 9.9 DMD TTN
21 left ventricular noncompaction 9.8 DMD TTN
22 scapuloperoneal myopathy, x-linked dominant 9.8
23 muscle hypertrophy 9.8
24 limb-girdle muscular dystrophy 9.8 DMD TTN
25 cardioneuromyopathy with hyaline masses and nemaline rods 9.7 DMD NEB TTN
26 myofibrillar myopathy 9.7 DMD NEB TTN
27 muscular disease 9.7 DMD NEB TTN
28 arrhythmogenic right ventricular cardiomyopathy 9.7 DMD TTN
29 muscular dystrophy 9.5 DMD FHL1 NEB TTN

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



Diseases related to Reducing Body Myopathy

Symptoms & Phenotypes for Reducing Body Myopathy

MGI Mouse Phenotypes related to Reducing Body Myopathy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 DMD FHL1 NEB TTN

Drugs & Therapeutics for Reducing Body Myopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search 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:

42
Skeletal Muscle

Publications for Reducing Body Myopathy

Articles related to Reducing Body Myopathy:

(show all 22)
# Title Authors Year
1
Gluteus maximus hypertrophy: A diagnostic clue in four and a half LIM domain 1-mutated reducing body myopathy. ( 28694073 )
2017
2
A case of adult-onset reducing body myopathy presenting a novel clinical feature, asymmetrical involvement of the sternocleidomastoid and trapezius muscles. ( 24928078 )
2014
3
Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders. ( 23965743 )
2013
4
Novel FHL1 mutation in a family with reducing body myopathy. ( 23169582 )
2013
5
Reducing body myopathy and other FHL1-related muscular disorders. ( 22172421 )
2011
6
Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1. ( 20571991 )
2010
7
Novel FHL1 mutations in fatal and benign reducing body myopathy. ( 19171836 )
2009
8
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. ( 19181672 )
2009
9
Muscle MRI in FHL1-linked reducing body myopathy. ( 19616434 )
2009
10
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. ( 18274675 )
2008
11
Familial reducing body myopathy. ( 16919903 )
2007
12
Unfolded protein response and aggresome formation in hereditary reducing-body myopathy. ( 17099882 )
2007
13
Nucleolar characteristics of reducing bodies in reducing body myopathy. ( 14735304 )
2004
14
Ultrastructural detection of DNA fragmentation in myonuclei of fatal reducing body myopathy. ( 14986028 )
2004
15
Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy. ( 11571700 )
2001
16
Adult onset reducing body myopathy. ( 10619716 )
1999
17
Fatal reducing body myopathy. Ultrastructural and immunohistochemical observations. ( 7722535 )
1995
18
Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings. ( 8140891 )
1994
19
A unique case of reducing body myopathy. ( 1314327 )
1992
20
New observations in reducing body myopathy. ( 4000482 )
1985
21
A benign form of reducing body myopathy. ( 6306460 )
1983
22
Reducing body myopathy. ( 4117299 )
1972

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 9.85 DMD FHL1 MAP7D3 NEB TTN TUBG1
2 cytoskeleton GO:0005856 9.62 DMD MAP7D3 NEB TUBG1
3 sarcomere GO:0030017 9.26 NEB TTN
4 myofibril GO:0030016 9.16 DMD NEB
5 condensed nuclear chromosome GO:0000794 8.96 TTN TUBG1
6 Z disc GO:0030018 8.8 DMD NEB TTN

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

# Name GO ID Score Top Affiliating Genes
1 microtubule cytoskeleton organization GO:0000226 9.26 MAP7D3 TUBG1
2 cardiac muscle contraction GO:0060048 9.16 DMD TTN
3 muscle organ development GO:0007517 9.13 DMD FHL1 NEB
4 muscle filament sliding GO:0030049 8.8 DMD NEB TTN

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 8.96 DMD TUBG1
2 structural constituent of muscle GO:0008307 8.8 DMD NEB TTN

Sources for Reducing Body Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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