ORPHA:370980
Congenital muscular dystrophy without intellectual disability
Synonyms: CMD without intellectual disability · CMD-no MR · Congenital muscular dystrophy-dystroglycanopathy without intellectual disability
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, congenital muscular dystrophy due to dystroglycanopathy characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased 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 without intellectual disability | CMD without intellectual disability · CMD-no MR · Congenital muscular dystrophy-dystroglycanopathy without intellectual disability |
| fr | Dystrophie musculaire congénitale sans déficience intellectuelle | CMD sans déficience intellectuelle · CMD-no MR · DMC sans déficience intellectuelle · Dystrophie musculaire congénitale-dystroglycanopathie sans déficience intellectuelle |
| de | Kongenitale Muskeldystrophie ohne Intelligenzminderung | CMD ohne Intelligenzminderung · Kongenitale Muskeldystrophie mit Dystroglykanopathie ohne Intelligenzminderung |
| es | Distrofia muscular congénita sin discapacidad intelectual | DMC sin discapacidad intelectual · Distrofia-distroglicanopatía muscular congénita sin discapacidad intelectual |
| it | Distrofia muscolare congenita senza disabilità intellettiva | CMD senza deficit cognitivo · CMD-no MR · Distrofia muscolare congenita-distroglicanopatia senza disabilità intellettiva |
| nl | Congenitale musculaire dystrofie zonder intellectuele achterstand | CMD zonder intellectuele achterstand · CMD-geen MR · Congenitale musculaire dystrofie-dystroglycanopathie zonder intellectuele achterstand |
| pt | Distrofia muscular congénita sem perturbação do desenvolvimento intelectual | CMD sem perturbação do desenvolvimento intelectual · CMD-no MR · Distrofia muscular congénita-distroglicanopatia sem perturbação do desenvolvimento intelectual |
| pl | Wrodzona dystrofia mięśniowa bez niepełnosprawności intelektualnej | CMD bez niepełnosprawności intelektualnej · CMD-no MR |
| cs | Vrozená svalová dystrofie bez mentální retardace | CMD bez mentální retardace · CMD-no MR |
| uk | Вроджена мязова дистрофія без інтелектуальної недостатності | ВМД без інтелектуальної недостатності · CMD - без MR · Вроджена мязова дистрофія-дистрогліанопатія без інтелектуальної недостатності |
| zh | 先天性肌营养不良不伴智力障碍 | 先天性肌营养不良-抗肌萎缩相关糖蛋白病不伴智力障碍 |
| tr | Zihinsel yetersizlik olmayan doğumsal kas distrofisi | CMD-MR olmadan · Zihinsel yetersizlik ile seyretmeyen CMD · Zihinsel yetersizlik olmayan doğumsal kas distrofisi-distroglikanopati |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606612 | NTBT | validated | |
| OMIM | 613152 | BTNT | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C70.6 | NTBT | attributed | validated |
| MONDO | 0018279 | E | validated | |
| MONDO | 1040033 | E | validated | |
| MONDO | 18279 | E | validated | |
| UMLS | C5190847 | 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: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
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CRPPA | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:37276 | ENSG00000214960 | 614631 | 7p21.2 | CDP-L-ribitol pyrophosphorylase A | 23288328[PMID] |
| FKRP | Disease-causing germline mutation(s) in | Assessed | HGNC:17997 | ENSG00000181027 | 606596 | 19q13.32 | fukutin related protein | 21397493[PMID] |
| FKTN | Disease-causing germline mutation(s) in | Assessed | HGNC:3622 | ENSG00000106692 | 607440 | 9q31.2 | fukutin | 21397493[PMID] |
| POMT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9202 | ENSG00000130714 | 607423 | 9q34.13 | protein O-mannosyltransferase 1 | 21397493[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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
27 annotations · validated 2018-07-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003560 | Muscular dystrophy | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0001771 | Achilles tendon contracture | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0001349 | Facial diplegia | |
| HP:0012548 | Fatty replacement of skeletal muscle | |
| HP:0002359 | Frequent falls | |
| HP:0001288 | Gait disturbance | |
| HP:0001290 | Generalized hypotonia | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0003797 | Limb-girdle muscle atrophy | |
| HP:0008180 | Mildly elevated creatine kinase | |
| HP:0001270 | Motor delay | |
| HP:0003394 | Muscle spasm | |
| HP:0003326 | Myalgia | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0007126 | Proximal amyotrophy | |
| HP:0030099 | Reduced muscle fiber alpha dystroglycan | |
| HP:0030051 | Tip-toe gait | |
| Occasional (29-5%) | ||
| HP:0002350 | Cerebellar cyst | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0000252 | Microcephaly | |
| Very rare (<4-1%) | ||
| HP:0002282 | Gray matter heterotopia | |
| HP:0001302 | Pachygyria | |
| HP:0002119 | Ventriculomegaly | |
| Excluded (0%) | ||
| HP:0001249 | Intellectual disability | Diagnostic criterion |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 11592034[PMID]_19299310[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/370980
- This record as JSON: /data/d/370980.json