Autosomal recessive spastic paraplegia type 27
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SPG27 |
| Number of Symptoms | 9 |
| OrphanetNr: | 101007 |
| OMIM Id: |
609041
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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: | 2 families [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Adult onset [Omim] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive complex spastic paraplegia
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0005340) | Spastic/hyperactive bladder | 4 / 7739 | ||||
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(HPO:0001258) | Spastic paraplegia | 97 / 7739 | ||||
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(HPO:0002061) | Lower limb spasticity | 56 / 7739 | ||||
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(HPO:0006938) | Impaired vibration sensation at ankles | 3 / 7739 | ||||
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(HPO:0002395) | Lower limb hyperreflexia | 26 / 7739 | ||||
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(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
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(HPO:0003487) | Babinski sign | 179 / 7739 | ||||
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(OMIM) | Decreased somatosensory-evoked potentials | 1 / 7739 | ||||
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(OMIM) | Normal muscle strength | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Meijer et al. (2004) reported a large French Canadian family in which 7 of 14 sibs had a pure form of spastic paraplegia (SPG) with adult onset (25 to 45 years). All affected individuals had moderate to severe ... |