MCID: CMP017
MIFTS: 26

Camptocormism

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Camptocormism

MalaCards integrated aliases for Camptocormism:

Name: Camptocormism 20
Idiopathic Camptocormia 20 58 6
Idiopathic Progressive Lumbar Kyphosis 20 58
Idiopathic Camptocormism 20 58
Bent Spine Syndrome 20
Camptocormia 20
Bent Spine 20

Characteristics:

Orphanet epidemiological data:

58
idiopathic camptocormia
Inheritance: Not applicable; Age of onset: Adult,Elderly; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

MESH via Orphanet 45 C537968
ICD10 via Orphanet 33 M43.8
UMLS via Orphanet 72 C0264162
Orphanet 58 ORPHA1320

Summaries for Camptocormism

GARD : 20 Camptocormia, camptocormism or "bent spine syndrome," (BSS) is an extreme forward flexion of the thoracolumbar spine, which often worsens during standing or walking, but completely resolves when laying down. The term itself is derived from the Greek "kamptos" (to bend) and "kormos" (trunk) BSS was initially considered, especially in wartime, as a result of a psychogenic disorder. It is now recognized that in it may also be related to a number of musculo-skeletal or neurological disorders. It seems that myopathy is the primary cause of camptocormia based on electromyography, magnetic resonance imaging/computed tomography (CT/MRI scans) of paraspinal muscles, and muscle biopsy. The majority of BSS of muscular origin is related to a primary idiopathic (with unknwon cause) axial myopathy of late onset, maybe a delayed-onset paraspinal myopathy, appearing in elderly patients. Causes of secondary BSS are numerous. The main causes are muscular disorders like inflammatory myopathies, muscular dystrophies of late onset, myotonic myopathies, endocrine and metabolic myopathies, and neurological disorders, principally Parkinson's disease. Diagnosis of axial myopathy is based upon CT/MRI scans demonstrating a lot of fatty infiltration of paravertebral muscles. General activity, walking with a cane, physiotherapy, and exercises should be encouraged. Treatment of secondary forms of BSS is dependent upon the cause.

MalaCards based summary : Camptocormism, also known as idiopathic camptocormia, is related to myopathy and mitochondrial myopathy. An important gene associated with Camptocormism is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways is Nucleotide Metabolism. Affiliated tissues include skeletal muscle and globus pallidus, and related phenotype is muscle.

Related Diseases for Camptocormism

Diseases related to Camptocormism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 131)
# Related Disease Score Top Affiliating Genes
1 myopathy 30.0 RRM2B POLG MYH7
2 mitochondrial myopathy 29.7 RRM2B POLG
3 muscular disease 29.5 POLG MYH7
4 mitochondrial metabolism disease 29.3 RRM2B POLG
5 ptosis 29.2 RRM2B POLG
6 mitochondrial disorders 29.1 RRM2B POLG
7 myopathy, x-linked, with postural muscle atrophy 11.3
8 birk-landau-perez syndrome 10.9
9 parkinson disease, late-onset 10.4
10 movement disease 10.3
11 multiple system atrophy 1 10.3
12 dystonia 10.2
13 myasthenia gravis 10.2
14 muscular dystrophy 10.2
15 polymyositis 10.2
16 conversion disorder 10.2
17 facioscapulohumeral muscular dystrophy 1 10.1
18 glycogen storage disease ii 10.1
19 parkinsonism 10.1
20 motor neuron disease 10.1
21 spondyloarthropathy 1 10.1
22 inflammatory spondylopathy 10.1
23 polyneuropathy 10.1
24 chronic inflammatory demyelinating polyradiculoneuropathy 10.1
25 demyelinating polyneuropathy 10.1
26 spondylitis 10.1
27 back pain 10.0
28 focal myositis 10.0
29 amyloidosis, hereditary, transthyretin-related 9.9
30 amyotrophic lateral sclerosis 1 9.9
31 inclusion body myositis 9.9
32 myositis 9.9
33 scoliosis, isolated 1 9.9
34 multiple acyl-coa dehydrogenase deficiency 9.9
35 segmental dystonia 9.9
36 scoliosis 9.9
37 idiopathic scoliosis 9.9
38 lateral sclerosis 9.9
39 sensory peripheral neuropathy 9.9
40 neuromuscular disease 9.9
41 spinal stenosis 9.9
42 amyloidosis 9.9
43 myotonic dystrophy 9.9
44 dysferlinopathy 9.9
45 tremor 9.9
46 muscular lipidosis 9.9
47 qualitative or quantitative defects of dysferlin 9.9
48 wild type attr amyloidosis 9.9
49 acyl-coa dehydrogenase deficiency 9.9
50 hereditary late-onset parkinson disease 9.9

Graphical network of the top 20 diseases related to Camptocormism:



Diseases related to Camptocormism

Symptoms & Phenotypes for Camptocormism

MGI Mouse Phenotypes related to Camptocormism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 MYH7 POLG RRM2B

Drugs & Therapeutics for Camptocormism

Search Clinical Trials , NIH Clinical Center for Camptocormism

Genetic Tests for Camptocormism

Anatomical Context for Camptocormism

MalaCards organs/tissues related to Camptocormism:

40
Skeletal Muscle, Globus Pallidus

Publications for Camptocormism

Articles related to Camptocormism:

# Title Authors PMID Year
1
Kearns-Sayre syndrome caused by defective R1/p53R2 assembly. 6
21378381 2011
2
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. 6
17486094 2007
3
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 6
16621917 2006
4
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 6
12707239 2003
5
Case Studies in Neuroscience: A dissociation of balance and posture demonstrated by camptocormia. 61
28978769 2018
6
An examination of camptocormia assessment by dynamic quantification of sagittal posture. 61
25268756 2015
7
A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. 61
23329375 2013
8
Restoration of erect posture in idiopathic camptocormia by electrical stimulation of the globus pallidus internus. 61
20380528 2010
9
[Camptocormia in the elderly. A new entity by paravertebral muscle involvement?]. 61
1609234 1992

Variations for Camptocormism

ClinVar genetic disease variations for Camptocormism:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RRM2B NM_001172477.1(RRM2B):c.469_471del (p.Glu157del) Deletion Pathogenic 132109 rs515726184 8:103238212-103238214 8:102225984-102225986
2 MYH7 NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) SNV Pathogenic 177697 rs200939753 14:23884434-23884434 14:23415225-23415225
3 POLG NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) SNV Pathogenic 65665 rs61752783 15:89870178-89870178 15:89326947-89326947

Expression for Camptocormism

Search GEO for disease gene expression data for Camptocormism.

Pathways for Camptocormism

Pathways related to Camptocormism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.9 RRM2B POLG

GO Terms for Camptocormism

Biological processes related to Camptocormism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 8.96 RRM2B POLG
2 mitochondrial DNA replication GO:0006264 8.62 RRM2B POLG

Sources for Camptocormism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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