Scapuloperoneal amyotrophy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Neurogenic scapuloperoneal syndrome Kaeser syndrome Stark-Kaeser syndrome |
| Number of Symptoms | 6 |
| OrphanetNr: | 85146 |
| OMIM Id: |
181400
181405 181430 300695 |
| ICD-10: |
G12.1 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant X-linked dominant [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic motor neuron disease
-Rare genetic disease -Rare neurologic disease Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) -Rare genetic disease |
Symptom Information:
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(HPO:0009027) | Foot dorsiflexor weakness | 45 / 7739 | ||||
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(HPO:0001762) | Talipes equinovarus | 309 / 7739 | ||||
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(HPO:0009049) | Peroneal muscle atrophy | 8 / 7739 | ||||
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(HPO:0003704) | Scapuloperoneal weakness | 6 / 7739 | ||||
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(HPO:0003724) | Shoulder girdle muscle atrophy | 14 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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