Myosclerosis
Synonyms: Congenital myosclerosis, Löwenthal type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Myosclerosis | Congenital myosclerosis, Löwenthal type |
| fr | Myosclérose | Myosclérose congenitale, type Löwenthal |
| de | Myosklerose | Myosklerose, kongenitale, Typ Löwenthal |
| es | Mioesclerosis | Mioesclerosis congénita tipo Löwenthal |
| it | Miosclerosi | Miosclerosi congenita, tipo Löwenthal |
| nl | Myosclerose | Congenitale myosclerose, Löwenthal-type |
| pt | Miosclerose | Miosclerose congénita, tipo Löwenthal |
| pl | Stwardnienie mięśni | Wrodzone stwardnienie mięśni |
| cs | Myoskleróza | Vrozená myoskleróza, Löwenthalův typ |
| uk | Міосклероз | Вроджений міосклероз, тип Левенталя |
| zh | 肌硬化症 | Löwenthal型先天性肌硬化症 |
| tr | Miyoskleroz | Doğumsal miyoskleroz, Löwenthal tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 255600 | E | validated | |
| ICD-10 | G71.8 | NTBT | attributed | validated |
| ICD-11 | 8C72.1 | NTBT | index | validated |
| MONDO | 0009714 | E | validated | |
| MeSH | C564968 | E | validated | |
| UMLS | C1850671 | E | validated | |
| MedDRA | 10064584 | 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 (2):
- ORPHA:206656Non-dystrophic myopathy
rare genetic diseases; rare neurological diseases - ORPHA:207090Qualitative or quantitative defects of collagen 6
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL6A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2212 | ENSG00000142173 | 120240 | 21q22.3 | collagen type VI alpha 2 chain | 18852439[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/289380
- This record as JSON: /data/d/289380.json