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
ICD-10: G11.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 20 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

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: Sort by abundance 

1
(HPO:0003487) Babinski sign 179 / 7739
2
(HPO:0002064) Spastic gait 46 / 7739
3
(HPO:0002166) Impaired vibration sensation in the lower limbs 26 / 7739
4
(HPO:0002061) Lower limb spasticity 56 / 7739
5
(HPO:0001258) Spastic paraplegia 97 / 7739
6
(HPO:0001347) Hyperreflexia 363 / 7739
7
(HPO:0003393) Thenar muscle atrophy 10 / 7739
8
(HPO:0001761) Pes cavus 225 / 7739
9
(HPO:0002460) Distal muscle weakness 122 / 7739
10
(HPO:0003392) First dorsal interossei muscle weakness 5 / 7739
11
(HPO:0003426) First dorsal interossei muscle atrophy 5 / 7739
12
(HPO:0007340) Lower limb muscle weakness 61 / 7739
13
(HPO:0003693) Distal amyotrophy 118 / 7739
14
(HPO:0003427) Thenar muscle weakness 5 / 7739
15
(HPO:0003677) Slow progression 134 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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 ...