Congenital muscular dystrophy due to LMNA mutation
Synonyms: L-CMD · LMNA-related congenital muscular dystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare congenital muscular dystrophy characterized by prominent axial hypotonia, predominantly proximal muscle weakness in upper limbs and distal in lower limbs, joint contractures (initially distal, later proximal), spinal rigidity, and progressive respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital muscular dystrophy due to LMNA mutation | L-CMD · LMNA-related congenital muscular dystrophy |
| fr | Dystrophie musculaire congénitale due à une mutation de LMNA | Dystrophie musculaire congénitale liée à LMNA · L-CMD |
| de | Muskeldystrophie, kongenitale, durch Lamin-A/C-Mangel | L-CMD · LMNA-abhängige kongenitale Muskeldystrophie |
| es | Distrofia muscular congénita por una mutación en el gen LMNA | Distrofia muscular congénita asociada a LMNA · L-CMD |
| it | Distrofia muscolare congenita da mutazione di LMNA | Distrofia muscolare congenita legata a LMNA · L-CMD |
| nl | Congenitale spierdystrofie door LMNA-mutatie | L-CMD · LMNA-gerelateerde congenitale spierdystrofie |
| pt | Distrofia muscular congénita relacionada com laminopatia | |
| pl | Wrodzona dystrofia mięśniowa spowodowana mutacją LMNA | L-CMD · Wrodzona dystrofia mięśniowa związana z LMNA |
| cs | Vrozená svalová dystrofie na podkladě mutací genu LMNA | L-CMD · LMNA-vázaná vrozená svalová dystrofie |
| uk | Вроджена мязова дистрофія внаслідок мутації LMNA | L-CMD · Вроджена мязова дистрофія, повязана з LMNA |
| zh | LMNA基因突变先天性肌营养不良 | LMNA基因相关先天性肌营养不良 |
| tr | LMNA mutasyonuna bağlı doğumsal kas distrofisi | L-CMD · LMNA-ilişkili doğumsal kas distrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613205 | E | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| MONDO | 0013178 | E | validated | |
| MeSH | C567708 | E | validated | |
| UMLS | C2750785 | 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:97242Congenital muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:300755Laminopathy with striated muscle involvement
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMNA | Disease-causing germline mutation(s) in | Assessed | HGNC:6636 | ENSG00000160789 | 150330 | 1q22 | lamin A/C | 18551513[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28125586[PMID] |
| Cases/families | 23 cases | Worldwide | Case(s) | Validated | 28125586[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
22 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003327 | Axial muscle weakness | |
| HP:0002421 | Poor head control | |
| Frequent (79-30%) | ||
| HP:0003457 | EMG abnormality | |
| HP:0011968 | Feeding difficulties | |
| HP:0001371 | Flexion contracture | |
| HP:0001288 | Gait disturbance | |
| HP:0001263 | Global developmental delay | |
| HP:0003307 | Hyperlordosis | |
| HP:0001252 | Hypotonia | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0003198 | Myopathy | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0003306 | Spinal rigidity | |
| Occasional (29-5%) | ||
| HP:0011675 | Arrhythmia | |
| HP:0004326 | Cachexia | |
| HP:0001635 | Congestive heart failure | |
| HP:0001522 | Death in infancy | |
| HP:0001558 | Decreased fetal movement | |
| HP:0001382 | Joint hypermobility | |
| HP:0000774 | Narrow chest | |
| HP:0001883 | Talipes | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 18551513[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/157973
- This record as JSON: /data/d/157973.json