Distal hereditary motor neuropathy type 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Distal spinal muscular atrophy type 2 dSMA2 dHMN2 |
| Number of Symptoms | 6 |
| OrphanetNr: | 139525 |
| OMIM Id: |
158590
608634 613376 |
| ICD-10: |
G12.2 |
| 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 [Orphanet] |
| Age of onset: |
Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal dominant distal hereditary motor neuropathy
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0002600) | Hyporeflexia of lower limbs | 13 / 7739 | ||||
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(HPO:0002522) | Areflexia of lower limbs | 16 / 7739 | ||||
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(HPO:0009053) | Distal lower limb muscle weakness | 13 / 7739 | ||||
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(HPO:0002601) | Paresis of extensor muscles of the big toe | 2 / 7739 | ||||
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(HPO:0003445) | EMG: neuropathic changes | 21 / 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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