Autosomal recessive distal nebulin myopathy
Synonyms: Nebulin-related early-onset distal myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
Distal nebulin myopathy is a rare, slowly progressive, autosomal recessive distal myopathy characterized by early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive distal nebulin myopathy | Nebulin-related early-onset distal myopathy |
| fr | Myopathie distale autosomique recessive précoce associée à la nébuline | |
| de | Nebulin-Myopathie, distale, autosomal-rezessive | Nebulin-assoziierte früh-einsetzende Nemalin-Myopathie |
| es | Miopatía distal asociada a nebulina autosómica recesiva | Miopatía distal de inicio precoz asociada a nebulina |
| it | Miopatia distale correlata alla nebulina | Miopatia distale a esordio precoce correlata alla nebulina |
| nl | Autosomaal recessieve distale nebulinemyopathie | Nebulinegerelateerde distale myopathie met vroege aanvang |
| pt | Miopatia distal com início precoce, relacionada com a proteína nebulina | |
| pl | Dystalna miopatia nebulinowa o dziedziczeniu autosomalnym recesywnym | = en |
| cs | Distální nebulin vázaná myopatie s časným nástupem | = en |
| uk | Дистальна небулінова міопатія | Небулінова дистальна міопатія, повязана з раннім початком |
| zh | 远端神经蛋白肌病 | 伴肌动蛋白相关早发远端肌病 |
| tr | Distal nebulin miyopatisi | Nebulin ilişkili erken başlangıçlı distal miyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 256030 | NTBT | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| MONDO | 0018371 | E | validated | |
| UMLS | C5190827 | 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:206653Autosomal recessive distal myopathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NEB | Disease-causing germline mutation(s) in | Assessed | HGNC:7720 | ENSG00000183091 | 161650 | 2q23.3 | nebulin | 17525139[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 29070751[PMID]_25205138[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29070751[PMID]_25205138[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
16 annotations · validated 2019-01-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0006466 | Ankle flexion contracture | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0000218 | High palate | |
| HP:0003722 | Neck flexor weakness | |
| HP:0003798 | Nemaline bodies | |
| HP:0009063 | Progressive distal muscle weakness | |
| HP:0012036 | Sternocleidomastoid amyotrophy | |
| HP:0009077 | Weakness of long finger extensor muscles | |
| HP:0009005 | Weakness of the intrinsic hand muscles | |
| Occasional (29-5%) | ||
| HP:0002875 | Exertional dyspnea | |
| HP:0012548 | Fatty replacement of skeletal muscle | |
| HP:0009073 | Progressive proximal muscle weakness | |
| HP:0001533 | Slender build | |
| HP:0030319 | Weakness of facial musculature | |
| Very rare (<4-1%) | ||
| HP:0001638 | Cardiomyopathy | |
Annotation source: 17525139[PMID]_23443021[PMID]_25205138[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/399103
- This record as JSON: /data/d/399103.json