Congenital fiber-type disproportion myopathy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CFTDM |
| Number of Symptoms | 34 |
| OrphanetNr: | 2020 |
| OMIM Id: |
255310
300580 |
| ICD-10: |
G71.2 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
240084007 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Autosomal recessive X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Congenital myopathy
-Rare genetic disease -Rare neurologic disease Qualitative or quantitative defects of alpha-actin -Rare genetic disease Qualitative or quantitative defects of selenoprotein N1 -Rare genetic disease Qualitative or quantitative defects of tropomyosin -Rare genetic disease |
Symptom Information:
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(HPO:0000276) | Long face | 109 / 7739 | ||||
|
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(HPO:0000218) | High palate | 356 / 7739 | ||||
|
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(HPO:0010628) | Facial palsy | 146 / 7739 | ||||
|
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(HPO:0000275) | Narrow face | 76 / 7739 | ||||
|
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(HPO:0000508) | Ptosis | 459 / 7739 | ||||
|
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(HPO:0000602) | Ophthalmoplegia | 20% [HPO:probinson] | 56 / 7739 | |||
|
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(HPO:0002015) | Dysphagia | 301 / 7739 | ||||
|
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(HPO:0001315) | Reduced tendon reflexes | Very frequent [Orphanet] | 160 / 7739 | |||
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(HPO:0002938) | Lumbar hyperlordosis | 73 / 7739 | ||||
|
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(HPO:0002650) | Scoliosis | Frequent [Orphanet] 25% [HPO:probinson] | 705 / 7739 | |||
|
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(HPO:0001374) | Congenital hip dislocation | 13% [HPO:probinson] | 51 / 7739 | |||
|
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(HPO:0003121) | Limb joint contracture | 25% [HPO:probinson] | 8 / 7739 | |||
|
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(HPO:0000767) | Pectus excavatum | Frequent [Orphanet] | 244 / 7739 | |||
|
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(HPO:0001558) | Decreased fetal movement | 74 / 7739 | ||||
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(HPO:0011968) | Feeding difficulties | 240 / 7739 | ||||
|
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0001644) | Dilated cardiomyopathy | 141 / 7739 | ||||
|
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(HPO:0002747) | Respiratory insufficiency due to muscle weakness | 48 / 7739 | ||||
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(HPO:0002205) | Recurrent respiratory infections | Frequent [Orphanet] | 254 / 7739 | |||
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(HPO:0002093) | Respiratory insufficiency | 410 / 7739 | ||||
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(HPO:0001612) | Weak cry | 17 / 7739 | ||||
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(HPO:0003755) | Type 1 fibers relatively smaller than type 2 fibers | 2 / 7739 | ||||
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(HPO:0001319) | Neonatal hypotonia | 101 / 7739 | ||||
|
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(HPO:0003324) | Generalized muscle weakness | 48 / 7739 | ||||
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(HPO:0003701) | Proximal muscle weakness | 105 / 7739 | ||||
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(HPO:0003687) | Centrally nucleated skeletal muscle fibers | 15 / 7739 | ||||
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(HPO:0001283) | Bulbar palsy | 31 / 7739 | ||||
|
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(HPO:0003198) | Myopathy | Very frequent [Orphanet] | 151 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0001425) | Heterogeneous | 132 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0003828) | Variable expressivity | 130 / 7739 | ||||
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(HPO:0030089) | Abnormal muscle fiber protein expression | Very frequent [Orphanet] | 64 / 7739 | |||
|
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(HPO:0003577) | Congenital onset | 133 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|