ORPHA:607
Nemaline myopathy
Synonyms: NEM · NM · Nemaline rod myopathy
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- All ages
- Status
- active
Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Nemaline myopathy | NEM · NM · Nemaline rod myopathy |
| fr | Myopathie à némaline | Myopathie congénitale à bâtonnets · NEM · NM |
| de | Nemalin-Myopathie | NEM · NM · Nemalin-Stäbchen-Myopathie |
| es | Miopatía nemalínica | MN · Miopatía nemalínica de bastoncillos · NEM · NM |
| it | Miopatia nemalinica | Miopatia nemalinica dei bastoncelli · NEM · NM |
| nl | Nemaline-myopathie | NEM · NM · Nemalinestaafjes-myopathie |
| pt | Miopatia nemalínica | Miopatia com bastonetes |
| pl | Miopatia nemalinowa | Miopatia nitkowata · NEM · NM |
| cs | Nemalinová myopatie | NEM · NM · Nemalinová tyčinková myopatie |
| uk | Немалінова міопатія | NEM · Немалінова паличкова міопатія · NM |
| zh | 杆状体肌病 | 杆状体肌病 |
| tr | Nemalin miyopatisi | NM · NEM · Nemalin çubuk miyopatisi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 8C72.00 | E | specific | validated |
| MONDO | 0018958 | E | validated | |
| MONDO | 18958 | E | validated | |
| MeSH | D017696 | E | validated | |
| UMLS | C0206157 | E | validated | |
| GARD | 12033 | 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 (1):
- ORPHA:206656Non-dystrophic myopathy
rare genetic diseases; rare neurological diseases
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2 / 100 000 | Europe | Value and class | Validated | ORPHANET_15221447[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | United Kingdom | Value and class | Validated | 19767415[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/607
- This record as JSON: /data/d/607.json