MCID: CMP017
MIFTS: 20

Camptocormism

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Camptocormism

MalaCards integrated aliases for Camptocormism:

Name: Camptocormism 54
Idiopathic Progressive Lumbar Kyphosis 54 60
Idiopathic Camptocormism 54 60
Idiopathic Camptocormia 54 60
Camptocormia 54 6
Bent Spine Syndrome 54
Bent Spine 54

Characteristics:

Orphanet epidemiological data:

60
idiopathic camptocormia
Inheritance: Not applicable; Age of onset: Adult,Elderly; Age of death: normal life expectancy;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

MESH via Orphanet 46 C537968
ICD10 via Orphanet 35 M43.8
UMLS via Orphanet 75 C0264162
Orphanet 60 ORPHA1320

Summaries for Camptocormism

NIH Rare Diseases : 54 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. The drugs Acetylcholine and abobotulinumtoxinA have been mentioned in the context of this disorder. Affiliated tissues include globus pallidus.

Related Diseases for Camptocormism

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 myopathy, x-linked, with postural muscle atrophy 11.3
2 birk-landau-perez syndrome 11.1
3 myositis 10.3
4 multiple system atrophy 1 10.2
5 parkinson disease, late-onset 10.2
6 myasthenia gravis 10.1
7 dystonia 10.1
8 myasthenia gravis congenital 10.1
9 facioscapulohumeral muscular dystrophy 1 10.1
10 myopathy 10.1
11 muscular dystrophy 10.1
12 polymyositis 10.1
13 inclusion body myositis 10.0
14 conversion disorder 10.0
15 focal myositis 10.0
16 amyloidosis, hereditary, transthyretin-related 10.0
17 myotonic dystrophy 1 10.0
18 multiple acyl-coa dehydrogenase deficiency 10.0
19 motor neuron disease 10.0
20 muscle disorders 10.0
21 ptosis 10.0
22 neuromuscular disease 10.0
23 amyloidosis 10.0
24 myotonic dystrophy 10.0
25 dysferlinopathy 10.0
26 myotonia atrophica 10.0
27 spondyloarthropathy 1 9.8
28 hernia, hiatus 9.8
29 attention deficit-hyperactivity disorder 9.8
30 scleroderma, familial progressive 9.8
31 ataxia-telangiectasia 9.8
32 muscular dystrophy, duchenne type 9.8
33 ataxia and polyneuropathy, adult-onset 9.8
34 chronic inflammatory demyelinating polyneuropathy 9.8
35 pol iii-related leukodystrophies 9.8
36 myofibrillar myopathy 9.8
37 tetanus 9.8
38 polyneuropathy 9.8
39 hypothyroidism 9.8
40 transient cerebral ischemia 9.8
41 nemaline myopathy 9.8
42 movement disease 9.8
43 mitochondrial myopathy 9.8
44 spontaneous intracranial hypotension 9.8
45 overlap myositis 9.8
46 spondylitis 9.8
47 demyelinating polyneuropathy 9.8
48 intracranial hypotension 9.8
49 ankylosis 9.8
50 telangiectasis 9.8

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 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
2 abobotulinumtoxinA Phase 4
3 Botulinum Toxins Phase 4
4 Acetylcholine Release Inhibitors Phase 4
5 Cholinergic Agents Phase 4
6 Neurotransmitter Agents Phase 4
7 Botulinum Toxins, Type A Phase 4

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
6 Effects of Different Physical Therapies and Dance in People With Parkinson's Disease Recruiting NCT03860649 Not Applicable

Search NIH Clinical Center for Camptocormism

Genetic Tests for Camptocormism

Anatomical Context for Camptocormism

MalaCards organs/tissues related to Camptocormism:

42
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 MYH7 NM_000257.4(MYH7): c.5329G> A (p.Ala1777Thr) single nucleotide variant Uncertain significance rs200939753 GRCh37 Chromosome 14, 23884434: 23884434
2 MYH7 NM_000257.4(MYH7): c.5329G> A (p.Ala1777Thr) single nucleotide variant Uncertain significance rs200939753 GRCh38 Chromosome 14, 23415225: 23415225
3 POLG NM_002693.2(POLG): c.1550G> T (p.Gly517Val) single nucleotide variant Conflicting interpretations of pathogenicity rs61752783 GRCh37 Chromosome 15, 89870178: 89870178
4 POLG NM_002693.2(POLG): c.1550G> T (p.Gly517Val) single nucleotide variant Conflicting interpretations of pathogenicity rs61752783 GRCh38 Chromosome 15, 89326947: 89326947
5 RRM2B NM_015713.4(RRM2B): c.253_255delGAG (p.Glu85del) deletion Likely pathogenic rs515726184 GRCh37 Chromosome 8, 103238212: 103238214
6 RRM2B NM_015713.4(RRM2B): c.253_255delGAG (p.Glu85del) deletion Likely pathogenic rs515726184 GRCh38 Chromosome 8, 102225984: 102225986

Expression for Camptocormism

Search GEO for disease gene expression data for Camptocormism.

Pathways for Camptocormism

GO Terms for Camptocormism

Sources for Camptocormism

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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