Hereditary inclusion body myopathy type 4
Synonyms: HIBM4
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary inclusion body myopathy type 4 | HIBM4 |
| fr | Myopathie à corps d'inclusion héréditaire type 4 | HIBM4 · Myopathie à inclusions héréditaire type 4 |
| de | Einschlusskörperchenmyopathie, hereditäre, Typ 4 | = en |
| es | Miopatía hereditaria por cuerpos de inclusión tipo 4 | = en |
| it | Miopatia ereditaria da corpi inclusi, tipo 4 | = en |
| nl | Erfelijke inclusielichaammyopathie type 4 | = en |
| pt | Miopatia hereditárica com corpos de inclusão, tipo 4 | |
| pl | Dziedziczna miopatia ciałek wtrętowych typu 4 | = en |
| cs | Hereditární myozitida s inkluzními tělísky, typ 4 | = en |
| uk | Спадкова міопатія з інклюзивними тілами, тип 4 | = en |
| zh | 遗传性包涵体肌病4型 | = en |
| tr | Kalıtsal inklüzyon vücut miyopatisi tip 4 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G71.8 | NTBT | attributed | validated |
| MONDO | 0017931 | E | validated | |
| UMLS | C4749501 | 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:206662Inclusion myopathy
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 22723986[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | 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/324381
- This record as JSON: /data/d/324381.json