ORPHA:370968
Congenital muscular dystrophy with intellectual disability
Synonyms: CMD with intellectual disability · CMD-MR
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy and delayed or arrested motor development, associated with mild to severe intellectual disability and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency, and ocular anomalies (e.g. strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital muscular dystrophy with intellectual disability | CMD with intellectual disability · CMD-MR |
| fr | Dystrophie musculaire congénitale avec déficience intellectuelle | CMD avec déficience intellectuelle · CMD-MR · DMC avec déficience intellectuelle |
| de | Kongenitale Muskeldystrophie mit Intelligenzminderung | CMD mit Intelligenzminderung · CMD-MR |
| es | Distrofia muscular congénita con discapacidad intelectual | DMC con discapacidad intelectual |
| it | Distrofia muscolare congenita con disabilità intellettiva | CMD con deficit cognitivo · CMD-MR |
| nl | Congenitale spierdystrofie met intellectuele achterstand | CMD-MR · CMD met intellectuele achterstand |
| pt | Distrofia muscular congénita com perturbação do desenvolvimento intelectual | CMD com perturbação do desenvolvimento intelectual · CMD-MR |
| pl | Wrodzona dystrofia mięśniowa z niepełnosprawnością intelektualną | CMD z niepełnosprawnością intelektualną · CMD-MR |
| cs | Vrozená svalová dystrofie s mentální retardací | CMD s mentální retardací · CMD-MR |
| uk | Вроджена мязова дистрофія з інтелектуальною недостатністю | ВМД з інтелектуальною недостатністю · CMD-MR |
| zh | 先天性肌营养不良伴智力障碍 | CMD伴智力障碍 |
| tr | Zihinsel yetersizlik ile seyreden doğumsal kas distrofisi | CMD-MR · Zihinsel yetersizlik ile seyreden CMD |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606612 | NTBT | validated | |
| OMIM | 608840 | NTBT | validated | |
| OMIM | 613155 | NTBT | validated | |
| OMIM | 613156 | NTBT | validated | |
| OMIM | 615351 | NTBT | validated | |
| OMIM | 618992 | NTBT | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 5C54.1 | NTBT | attributed | validated |
| MONDO | 0018278 | E | validated | |
| UMLS | C5190846 | 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 (4):
- ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - ORPHA:370953Congenital muscular dystrophy due to dystroglycanopathy
rare genetic diseases; rare neurological diseases - ORPHA:309469Disorder of O-mannosylglycan synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FKRP | Disease-causing germline mutation(s) in | Assessed | HGNC:17997 | ENSG00000181027 | 606596 | 19q13.32 | fukutin related protein | 21397493[PMID] |
| GMPPB | Disease-causing germline mutation(s) in | Assessed | HGNC:22932 | ENSG00000173540 | 615320 | 3p21.31 | GDP-mannose pyrophosphorylase B | 23768512[PMID]_21397493[PMID] |
| LARGE1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6511 | ENSG00000133424 | 603590 | 22q12.3 | LARGE xylosyl- and glucuronyltransferase 1 | 21397493[PMID] |
| POMT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9202 | ENSG00000130714 | 607423 | 9q34.13 | protein O-mannosyltransferase 1 | 21397493[PMID] |
| POMT2 | Disease-causing germline mutation(s) in | Assessed | HGNC:19743 | ENSG00000009830 | 607439 | 14q24.3 | protein O-mannosyltransferase 2 | 21397493[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Not yet documented | — | Worldwide | Class only | Validated | ORPHANET |
| Annual incidence | Unknown | — | Worldwide | Class only | 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
43 annotations · validated 2019-04-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0008947 | Floppy infant | |
| HP:0030046 | Hypoglycosylation of alpha-dystroglycan | |
| HP:0001249 | Intellectual disability | |
| HP:0030099 | Reduced muscle fiber alpha dystroglycan | |
| Frequent (79-30%) | ||
| HP:0008981 | Calf muscle hypertrophy | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0030197 | Fatigable weakness of skeletal muscles | |
| HP:0011968 | Feeding difficulties | |
| HP:0001263 | Global developmental delay | |
| HP:0003325 | Limb-girdle muscle weakness | |
| HP:0000252 | Microcephaly | |
| HP:0001270 | Motor delay | |
| HP:0002828 | Multiple joint contractures | |
| HP:0007015 | Poor gross motor coordination | |
| Occasional (29-5%) | ||
| HP:0002518 | Abnormal periventricular white matter morphology | |
| HP:0003549 | Abnormality of connective tissue | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0007361 | Abnormality of the pons | |
| HP:0040173 | Abnormality of the tongue muscle | |
| HP:0003327 | Axial muscle weakness | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0000028 | Cryptorchidism | |
| HP:0004637 | Decreased cervical spine mobility | |
| HP:0010628 | Facial palsy | |
| HP:0002827 | Hip dislocation | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002505 | Loss of ambulation | |
| HP:0000054 | Micropenis | |
| HP:0000545 | Myopia | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0002465 | Poor speech | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0002878 | Respiratory failure | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002650 | Scoliosis | |
| HP:0003712 | Skeletal muscle hypertrophy | |
| HP:0008443 | Spinal deformities | |
| HP:0000486 | Strabismus | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 30454682[PMID]_19299310[PMID]_17878207[PMID]_17634419[PMID]_20301468[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/370968
- This record as JSON: /data/d/370968.json