Idiopathic camptocormia
Synonyms: Idiopathic camptocormism · Idiopathic progressive lumbar kyphosis
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Idiopathic camptocormia | Idiopathic camptocormism · Idiopathic progressive lumbar kyphosis |
| fr | Camptocormie idiopathique | Camptocormisme idiopathique · Cyphose lombaire progressive idiopathique |
| de | Kamptokormie, idiopathische | Idiopathische progressive Lendenkyphose |
| es | Camptocormia idiopática | Camptocormismo idiopático · Cifosis lumbar idiopática progresiva |
| it | Camptocormia idiopatica | Camptocormismo idiopatico · Cifosi lombare progressiva idiopatica |
| nl | Idiopathische camptocormie | Idiopathische progressieve lumbale kyfose |
| pt | Camptocormia idiopática | Camptocormismo idiopático · Cifose lombar idiopática progressiva |
| pl | Kamptokormia | Kamptokormia |
| cs | Idiopatická kamptokormie | Idiopatický kamptokormismus · Idiopatická progresivní lumbární kyfóza |
| uk | Ідіопатична кампокормія | Ідіопатичний кампокормізм · Ідіопатичний прогресуючий поперековий кіфоз |
| zh | 特发性躯干前曲症 | 特发性进行性腰椎后凸 |
| tr | İdiyopatik kamptocormi | İdiyopatik kamptocormism · İdiyopatik ilerleyici lomber kifoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M43.8 | NTBT | attributed | validated |
| MONDO | 0015271 | E | validated | |
| MeSH | C537968 | E | validated | |
| UMLS | C0264162 | E | validated | |
| GARD | 1063 | E | validated | |
| MedDRA | 10069646 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:206638Acquired skeletal muscle disease
rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
33 annotations · validated 2021-08-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0005108 | Abnormal intervertebral disk morphology | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0002059 | Cerebral atrophy | |
| HP:0001332 | Dystonia | |
| HP:0100285 | EMG: impaired neuromuscular transmission | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0003445 | EMG: neuropathic changes | |
| HP:0002758 | Osteoarthritis | |
| Occasional (29-5%) | ||
| HP:0012647 | Abnormal inflammatory response | |
| HP:0100022 | Abnormality of movement | |
| HP:0000234 | Abnormality of the head | |
| HP:0007354 | Amyotrophic lateral sclerosis | |
| HP:0003444 | EMG: chronic denervation signs | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0001300 | Parkinsonism | |
| HP:0006959 | Proximal spinal muscular atrophy | |
| Very rare (<4-1%) | ||
| HP:0002134 | Abnormal basal ganglia morphology | |
| HP:0030113 | Abnormal muscle fiber dysferlin | |
| HP:0003398 | Abnormal synaptic transmission at the neuromuscular junction | |
| HP:0002715 | Abnormality of the immune system | |
| HP:0007361 | Abnormality of the pons | |
| HP:0002511 | Alzheimer disease | |
| HP:0030197 | Fatigable weakness of skeletal muscles | |
| HP:0012548 | Fatty replacement of skeletal muscle | |
| HP:0002145 | Frontotemporal dementia | |
| HP:0100315 | Lewy bodies | |
| HP:0003737 | Mitochondrial myopathy | |
| HP:0012486 | Myelitis | |
| HP:0100614 | Myositis | |
| HP:0002486 | Myotonia | |
| HP:0003416 | Spinal canal stenosis | |
| HP:0003396 | Syringomyelia | |
Annotation source: 30105164[PMID]_30783552[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1320
- This record as JSON: /data/d/1320.json