ORPHA:171442
Adult-onset nemaline myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adult-onset nemaline myopathy | |
| fr | Myopathie némaline de l'adulte | |
| de | Nemalin-Myopathie mit Beginn im Erwachsenenalter | |
| es | Miopatía nemalínica de inicio en el adulto | |
| it | Miopatia nemalinica a esordio nell'età adulta | |
| nl | Nemaline myopathie met aanvang op volwassen leeftijd | |
| pt | Miopatia nemalínica de início no adulto | |
| pl | Miopatia nemalinowa o początku w wieku dorosłym | |
| cs | Nemalinová myopatie s nástupem v dospělosti | |
| uk | Немалінова міопатія у дорослих | |
| zh | 成人起病杆状体肌病 | |
| tr | Yetişkin başlangıçlı nemalin miyopatisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C72.00 | NTBT | index | validated |
| MONDO | 0015739 | E | validated | |
| UMLS | C0546123 | E | validated | |
| GARD | 12824 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:607Nemaline myopathy
rare genetic diseases; rare neurological diseases - ORPHA:209059Qualitative or quantitative defects of alpha-actin
rare genetic diseases - ORPHA:209182Qualitative or quantitative defects of nebulin
rare genetic diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | 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.
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HPO phenotypes
29 annotations · validated 2018-10-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0003198 | Myopathy | |
| HP:0003798 | Nemaline bodies | |
| Frequent (79-30%) | ||
| HP:0002067 | Bradykinesia | |
| HP:0009058 | Increased muscle lipid content | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| HP:0003326 | Myalgia | |
| HP:0003722 | Neck flexor weakness | |
| HP:0031047 | Paraproteinemia | |
| HP:0003803 | Type 1 muscle fiber predominance | |
| HP:0003484 | Upper limb muscle weakness | |
| Occasional (29-5%) | ||
| HP:0002483 | Bulbar signs | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0011968 | Feeding difficulties | |
| HP:0001371 | Flexion contracture | |
| HP:0001288 | Gait disturbance | |
| HP:0000218 | High palate | |
| HP:0001265 | Hyporeflexia | |
| HP:0000276 | Long face | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0000347 | Micrognathia | |
| HP:0010546 | Muscle fibrillation | |
| HP:0003552 | Muscle stiffness | |
| HP:0000275 | Narrow face | |
| HP:0002068 | Neuromuscular dysphagia | |
| HP:0002792 | Reduced vital capacity | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
| Very rare (<4-1%) | ||
| HP:0008180 | Mildly elevated creatine kinase | |
| Excluded (0%) | ||
| HP:0007010 | Poor fine motor coordination | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 22431881[PMID]_25205138[PMID]_8552868[PMID]_6855830[PMID]_10417802[PMID]_16148261[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171442
- This record as JSON: /data/d/171442.json