Autosomal dominant spastic paraplegia type 17
General Information (adopted from Orphanet):
Synonyms, Signs: |
SILVER SPASTIC PARAPLEGIA SYNDROME SPASTIC PARAPLEGIA WITH AMYOTROPHY OF HANDS AND FEET SPG17 dHMN5B Spastic paraplegia-amyotrophy of hands and feet Distal hereditary motor neuropathy type 5B silver syndrome |
Number of Symptoms | 15 |
OrphanetNr: | 100998 |
OMIM Id: |
270685
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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: | < 20 families [Orphanet] |
Inheritance: |
Autosomal dominant [Orphanet] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: |
Autosomal dominant complex spastic paraplegia
-Rare genetic disease -Rare neurologic disease Autosomal dominant distal hereditary motor neuropathy -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0003487) | Babinski sign | 179 / 7739 | ||||
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(HPO:0002064) | Spastic gait | 46 / 7739 | ||||
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(HPO:0002166) | Impaired vibration sensation in the lower limbs | 26 / 7739 | ||||
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(HPO:0002061) | Lower limb spasticity | 56 / 7739 | ||||
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(HPO:0001258) | Spastic paraplegia | 97 / 7739 | ||||
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(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
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(HPO:0003393) | Thenar muscle atrophy | 10 / 7739 | ||||
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(HPO:0001761) | Pes cavus | 225 / 7739 | ||||
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(HPO:0002460) | Distal muscle weakness | 122 / 7739 | ||||
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(HPO:0003392) | First dorsal interossei muscle weakness | 5 / 7739 | ||||
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(HPO:0003426) | First dorsal interossei muscle atrophy | 5 / 7739 | ||||
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(HPO:0007340) | Lower limb muscle weakness | 61 / 7739 | ||||
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(HPO:0003693) | Distal amyotrophy | 118 / 7739 | ||||
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(HPO:0003427) | Thenar muscle weakness | 5 / 7739 | ||||
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(HPO:0003677) | Slow progression | 134 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
Silver (1966) reported 2 families with spastic paraplegia with amyotrophy of the hands inherited in an autosomal dominant pattern. In the larger family with more affected members, age at onset of gait abnormalities was 8 to 40 years ... |
Molecular genetics OMIM |
In affected members of 1 English and 4 Austrian families with Silver syndrome, Windpassinger et al. (2004) identified heterozygosity for an asn88-to-ser mutation in the BSCL2 gene (N88S; 606158.0013). The English family was the original one reported by ... |