Miyoshi myopathy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 13 |
| OrphanetNr: | 45448 |
| OMIM Id: |
254130
613318 613319 |
| ICD-10: |
G71.0 |
| UMLs: |
C1850808 |
| MeSH: |
C537480 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 0.26 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive distal myopathy
-Rare genetic disease -Rare neurologic disease Qualitative or quantitative defects of dysferlin -Rare genetic disease |
Symptom Information:
|
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(HPO:0009072) | Decreased Achilles reflex | 2 / 7739 | ||||
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(HPO:0010546) | Muscle fibrillation | 1 / 7739 | ||||
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(HPO:0200101) | Decreased/absent ankle reflexes | 4 / 7739 | ||||
|
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(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
|
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(HPO:0003791) | Deposits immunoreactive to beta-amyloid protein | Rare [HPO:probinson] | 4 / 7739 | |||
|
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(HPO:0002460) | Distal muscle weakness | 122 / 7739 | ||||
|
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(HPO:0003560) | Muscular dystrophy | 88 / 7739 | ||||
|
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(HPO:0007340) | Lower limb muscle weakness | 61 / 7739 | ||||
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(HPO:0003693) | Distal amyotrophy | 118 / 7739 | ||||
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(HPO:0003551) | Difficulty climbing stairs | 23 / 7739 | ||||
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(HPO:0003581) | Adult onset | Common [HPO:probinson] | 117 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
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(HPO:0001425) | Heterogeneous | 132 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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