MCID: CMP017
MIFTS: 25

Camptocormism

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Camptocormism

MalaCards integrated aliases for Camptocormism:

Name: Camptocormism 53
Idiopathic Progressive Lumbar Kyphosis 53 59
Idiopathic Camptocormism 53 59
Idiopathic Camptocormia 53 59
Camptocormia 53 6
Bent Spine Syndrome 53
Bent Spine 53

Characteristics:

Orphanet epidemiological data:

59
idiopathic camptocormia
Inheritance: Not applicable; Age of onset: Adult,Elderly; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA1320
UMLS via Orphanet 74 C0264162
MESH via Orphanet 45 C537968
ICD10 via Orphanet 34 M43.8

Summaries for Camptocormism

NIH Rare Diseases : 53 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 progressive lumbar kyphosis, is related to myopathy, x-linked, with postural muscle atrophy and birk-landau-perez syndrome. An important gene associated with Camptocormism is RRM2B (Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B), and among its related pathways/superpathways is Nucleotide Metabolism. The drugs Acetylcholine and abobotulinumtoxinA have been mentioned in the context of this disorder. Affiliated tissues include globus pallidus.

Related Diseases for Camptocormism

Graphical network of the top 20 diseases related to Camptocormism:



Diseases related to Camptocormism

Symptoms & Phenotypes for Camptocormism

Drugs & Therapeutics for Camptocormism

Drugs for Camptocormism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4 51-84-3 187
2 abobotulinumtoxinA Phase 4
3 Cholinergic Agents Phase 4
4 Neurotransmitter Agents Phase 4
5 onabotulinumtoxinA Phase 4
6 Botulinum Toxins, Type A Phase 4
7 Botulinum Toxins Phase 4
8
Menthol Approved Not Applicable 2216-51-5 16666

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Use of Botox in Advanced Parkinson's Patients Experiencing Pain Unknown status NCT02472210 Phase 4 Botulinum Toxin
2 Pilot Study on the Effects of Neuromuscular Taping in Parkinson's Disease Patients Completed NCT03104049 Not Applicable
3 A Rehabilitative Approach in Patients With Parkinson's Disease Completed NCT02891473 Not Applicable
4 Prevalence of Abnormal Postures in Parkinson's Disease Recruiting NCT03573232
5 Osteopathic Manual Treatment Parkinson's Disease and Truncal Dystonia Recruiting NCT03307161 Not Applicable

Search NIH Clinical Center for Camptocormism

Genetic Tests for Camptocormism

Anatomical Context for Camptocormism

MalaCards organs/tissues related to Camptocormism:

41
Globus Pallidus

Publications for Camptocormism

Articles related to Camptocormism:

# Title Authors Year
1
Restoration of erect posture in idiopathic camptocormia by electrical stimulation of the globus pallidus internus. ( 20380528 )
2010

Variations for Camptocormism

ClinVar genetic disease variations for Camptocormism:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RRM2B NM_015713.4(RRM2B): c.253_255delGAG (p.Glu85del) deletion Likely pathogenic rs515726184 GRCh37 Chromosome 8, 103238212: 103238214
2 RRM2B NM_015713.4(RRM2B): c.253_255delGAG (p.Glu85del) deletion Likely pathogenic rs515726184 GRCh38 Chromosome 8, 102225984: 102225986
3 MYH7 NM_000257.3(MYH7): c.5329G> A (p.Ala1777Thr) single nucleotide variant Uncertain significance rs200939753 GRCh37 Chromosome 14, 23884434: 23884434
4 MYH7 NM_000257.3(MYH7): c.5329G> A (p.Ala1777Thr) single nucleotide variant Uncertain significance rs200939753 GRCh38 Chromosome 14, 23415225: 23415225

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 POLG RRM2B

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 POLG RRM2B
2 mitochondrial DNA replication GO:0006264 8.62 POLG RRM2B

Sources for Camptocormism

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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