Fatal infantile hypertonic myofibrillar myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Fatal infantile hypertonic myofibrillar myopathy is a rare, genetic skeletal muscle disease characterized by muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fatal infantile hypertonic myofibrillar myopathy | |
| fr | Myopathie myofibrillaire hypertonique infantile fatale | |
| de | Fatale infantile hypertone myofibrilläre Myopathie | |
| es | Miopatía miofibrilar hipertónica letal del lactante | Miopatía miofibrilar ligada al alfa-B-cristalina |
| it | Miopatia miofibrillare ipertonica infantile fatale | |
| nl | Fatale infantiele hypertonische myofibrillaire myopathie | |
| pt | Miopatia miofibrilar hipertónica fatal, do latente | Miopatia miofibrilar relacionada com cristalino alfa-B |
| pl | Śmiertelna dziecięca miopatia miofibrylarna ze wzmożonym napięciem | |
| cs | Fatální infantilní hypertonická myofibrilární myopatie | |
| uk | Фатальна дитяча гіпертонічна міофібрилярна міопатія | |
| zh | 致死性婴儿高肌张力性肌原纤维肌病 | |
| tr | Fatal infantil hipertonik miyofibriler miyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613869 | E | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C76 | NTBT | index | validated |
| MONDO | 0013472 | E | validated | |
| UMLS | C5190691 | 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:98910Alpha-crystallinopathy
rare genetic diseases; rare neurological diseases - ORPHA:476403Hypercontractile muscle stiffness syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CRYAB | Disease-causing germline mutation(s) in | Assessed | HGNC:2389 | ENSG00000109846 | 123590 | 11q23.1 | crystallin alpha B | 21337604[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 21337604[PMID]_22734908[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21337604[PMID]_22734908[PMID] |
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/280553
- This record as JSON: /data/d/280553.json