Autosomal dominant spastic paraplegia type 41
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SPG41 |
| Number of Symptoms | 7 |
| OrphanetNr: | 320355 |
| OMIM Id: |
613364
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| ICD-10: |
G11.4 |
| 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 [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal dominant pure spastic paraplegia
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000012) | Urinary urgency | 35 / 7739 | ||||
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(HPO:0002064) | Spastic gait | 46 / 7739 | ||||
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(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
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(HPO:0001258) | Spastic paraplegia | 97 / 7739 | ||||
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(HPO:0007340) | Lower limb muscle weakness | 61 / 7739 | ||||
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(HPO:0008994) | Proximal muscle weakness in lower limbs | 11 / 7739 | ||||
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(OMIM) | Mild weakness of the small hand muscles | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Zhao et al. (2008) reported a 4-generation Chinese family in which 7 individuals had pure spastic paraplegia inherited in an autosomal dominant pattern. The average age at onset was 16.6 years, and all showed proximal muscle weakness of ... |