Myopathy with hexagonally cross-linked tubular arrays
- Type
- Disease
- Group
- Disorder
- Status
- active
Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Myopathy with hexagonally cross-linked tubular arrays | |
| fr | Myopathie avec configuration hexagonale des tubules | |
| de | Myopathie mit hexagonal verknüpften tubulären Aggregaten | |
| es | Miopatía con estructura tubular hexagonal | |
| it | Miopatia con strutture tubulari incrociate ad esagono | |
| nl | Myopathie met hexagonaal gekoppelde tubulaire aggregaten | |
| pt | Miopatia com matrizes tubulares com ligação hexagonal | |
| pl | Myopathy with hexagonally cross-linked tubular arrays | |
| cs | Myopatie s hexagonálně zkříženými sadami tubulů | |
| uk | Міопатія з гексагонально зшитими трубчастими масивами | |
| zh | 肌病伴六角车辐状管排列 | |
| tr | Altıgen çapraz bağlı tübüler diziler ile seyreden miyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C72.0Y | NTBT | index | validated |
| MONDO | 0015755 | E | validated | |
| UMLS | C4707259 | 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:97245Congenital myopathy
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171889
- This record as JSON: /data/d/171889.json