Distal myopathy, Nonaka type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HIBM2 IBM2 Nonaka myopathy Hereditary inclusion body myopathy type 2 Quadriceps-sparing myopathy Inclusion body myopathy type 2 Distal myopathy with rimmed vacuoles |
| Number of Symptoms | 11 |
| OrphanetNr: | 602 |
| OMIM Id: |
600737
605820 |
| ICD-10: |
G71.8 |
| UMLs: |
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| MeSH: |
C536816 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| 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 Congenital disorder of glycosylation with neurological involvement -Rare genetic disease -Rare neurologic disease Disorder of multiple glycosylation -Rare genetic disease Inclusion myopathy -Rare genetic disease -Rare neurologic disease Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - -Rare genetic disease |
Symptom Information:
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(HPO:0001288) | Gait disturbance | 318 / 7739 | ||||
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(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
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(HPO:0003797) | Limb-girdle muscle atrophy | 8 / 7739 | ||||
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(HPO:0003325) | Limb-girdle muscle weakness | 22 / 7739 | ||||
|
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(HPO:0003693) | Distal amyotrophy | 118 / 7739 | ||||
|
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(HPO:0003701) | Proximal muscle weakness | 105 / 7739 | ||||
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(HPO:0003791) | Deposits immunoreactive to beta-amyloid protein | 4 / 7739 | ||||
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(HPO:0003458) | EMG: myopathic abnormalities | 38 / 7739 | ||||
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(HPO:0003805) | Rimmed vacuoles | 22 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0003581) | Adult onset | 117 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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