Myosin storage myopathy
Synonyms: Hyaline body myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adult, Childhood
- Status
- active
A rare congenital myopathy characterized by generalized proximal and distal muscle weakness and/or atrophy with slow progression. A subset of patients present with scapuloperoneal weakness and scapular winging. Disease onset usually occurs during infancy/childhood, but adult-onset cases have also been reported. Patients may have respiratory problems and/or cardiomyopathy. Muscle biopsies show hyaline body inclusions in type I fibers.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Myosin storage myopathy | Hyaline body myopathy |
| fr | Myopathie avec surcharge en myosine | Myosinopathie · Myopathie à corps hyalins |
| de | Myosin-Speicher-Myopathie | Hyaline Körper-Myopathie |
| es | Miopatía por almacenamiento de miosina | Miopatía por cuerpos hialinos |
| it | Miopatia da accumulo di miosina | Miopatia con corpi ialini |
| nl | Myopathie met myosinestapeling | Myopathie met hyaliene lichaampjes |
| pt | Miopatia de armazenamento de miosina | Miopatia de corpos hialinos |
| pl | Miopatia z ciałkami hialinowymi | Miopatia ze spichrzaniem miozyny |
| cs | Myopatie s hyalinními tělísky | = en |
| uk | Міозинова накопичувальна міопатія | Гіалінова міопатія тіла |
| zh | 均质小体肌病 | |
| tr | Hiyalin vücut miyopatisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 255160 | BTNT | validated | |
| OMIM | 608358 | BTNT | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C72.0Y | NTBT | index | validated |
| MONDO | 0018889 | E | validated | |
| MeSH | C564253 | E | validated | |
| UMLS | C1842160 | E | validated | |
| GARD | 7148 | 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:97245Congenital myopathy
rare genetic diseases; rare neurological diseases - ORPHA:209185Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
rare genetic diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| MYH7 | ORPHA:636965Autosomal dominant myosin storage myopathy | Disease-causing germline mutation(s) in | Assessed | HGNC:7577 | ENSG00000092054 | 160760 | 14q11.2 | myosin heavy chain 7 | 21288719[PMID] |
| MYH7 | ORPHA:636970Autosomal recessive myosin storage myopathy | Disease-causing germline mutation(s) in | Assessed | HGNC:7577 | ENSG00000092054 | 160760 | 14q11.2 | myosin heavy chain 7 | 17372140[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | 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/53698
- This record as JSON: /data/d/53698.json