MCID: RDC010
MIFTS: 30

Reducing Body Myopathy

Categories: Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Reducing Body Myopathy

MalaCards integrated aliases for Reducing Body Myopathy:

Name: Reducing Body Myopathy 12 53 59 37 15
Reducing-Body Myopathy 73

Characteristics:

Orphanet epidemiological data:

59
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: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080090
Orphanet 59 ORPHA97239
ICD10 via Orphanet 34 G71.2
UMLS via Orphanet 74 C0270970
KEGG 37 H00657
UMLS 73 C0270970

Summaries for Reducing Body Myopathy

NIH Rare Diseases : 53 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 reducing-body myopathy, is related to myopathy, congenital and rigid spine muscular dystrophy 1. 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 behavior/neurological and 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 31)
# Related Disease Score Top Affiliating Genes
1 myopathy, congenital 29.2 DMD NEB
2 rigid spine muscular dystrophy 1 29.0 DMD FHL1 TTN
3 myopathy 27.6 DES DMD FHL1 NEB TTN
4 reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset 12.5
5 reducing body myopathy, x-linked 1b, with late childhood or adult onset 12.4
6 foot drop 10.2 FHL1 NEB
7 muscular dystrophy, limb-girdle, type 2f 10.0 DMD TTN
8 muscular dystrophy, limb-girdle, type 2b 10.0 DMD TTN
9 distal muscular dystrophy 9.9 DMD TTN
10 intrinsic cardiomyopathy 9.8 DMD TTN
11 myopathy, spheroid body 9.7 DES TTN
12 centronuclear myopathy 9.7 DMD TTN
13 muscle tissue disease 9.7 DMD NEB
14 central core disease of muscle 9.7 DES NEB
15 cardiomyopathy, dilated, 1e 9.7 DES TTN
16 extracardiac rhabdomyoma 9.7 DES DMD
17 cytoplasmic body myopathy 9.6 DES DMD
18 microcolon 9.6 DES DMD
19 myositis 9.5 DMD TTN
20 myofibrillar myopathy 9.5 DES DMD
21 restrictive cardiomyopathy 9.4 DES TTN
22 limb-girdle muscular dystrophy 9.3 DMD TTN
23 familial isolated dilated cardiomyopathy 9.1 DES DMD TTN
24 neuromuscular disease 9.1 DES DMD TTN
25 atrial standstill 1 9.1 DES DMD TTN
26 left ventricular noncompaction 9.1 DES DMD TTN
27 arrhythmogenic right ventricular cardiomyopathy 9.1 DES DMD TTN
28 hypertrophic cardiomyopathy 8.6 DES DMD FHL1 TTN
29 cardioneuromyopathy with hyaline masses and nemaline rods 8.5 DES DMD NEB TTN
30 dilated cardiomyopathy 8.4 DES DMD DNAH8 TTN
31 muscular dystrophy 8.0 DES 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.35 DES DMD FHL1 NEB TTN
2 muscle MP:0005369 9.02 DMD FHL1 NEB TTN DES

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:

41
Skeletal Muscle

Publications for Reducing Body Myopathy

Articles related to Reducing Body Myopathy:

(show all 21)
# 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
Novel FHL1 mutation in a family with reducing body myopathy. ( 23169582 )
2013
4
Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders. ( 23965743 )
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
Muscle MRI in FHL1-linked reducing body myopathy. ( 19616434 )
2009
9
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. ( 19181672 )
2009
10
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. ( 18274675 )
2008
11
Unfolded protein response and aggresome formation in hereditary reducing-body myopathy. ( 17099882 )
2007
12
Familial reducing body myopathy. ( 16919903 )
2007
13
Ultrastructural detection of DNA fragmentation in myonuclei of fatal reducing body myopathy. ( 14986028 )
2004
14
Nucleolar characteristics of reducing bodies in reducing body myopathy. ( 14735304 )
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

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 DES DMD DNAH8 FHL1 NEB TTN
2 cytoskeleton GO:0005856 9.56 DES DMD DNAH8 NEB
3 sarcolemma GO:0042383 9.32 DES DMD
4 myofibril GO:0030016 9.16 DMD NEB
5 contractile fiber GO:0043292 8.96 DES NEB
6 Z disc GO:0030018 8.92 DES DMD NEB TTN

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 9.26 DES TTN
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 8.92 DES 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 DES DMD
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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