Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin. [ Orphanet:101000 ]
Synonyms: spastic paraplegia 20 (Troyer syndrome) autosomal recessive spastic paraplegia 20 autosomal recessive spastic paraplegia Troyer type Troyer syndrome hereditary spastic paraplegia 20 spastic paraplegia type 20 autosomal recessive spastic paraplegia type 20 childhood-onset spastic paraparesis-distal muscle wasting syndrome childhood-onset spastic paraparesis with distal muscle wasting SPG20
Term information
- SCTID:230264003 (MONDO:equivalentTo)
- MESH:C536858 (MONDO:equivalentTo)
- Orphanet:101000 (OMIM:275900)
- DOID:0050886 (MONDO:equivalentTo)
- ICD9:335.29 (MONDO:relatedTo)
- UMLS:C0393559 (Orphanet:101000)
- OMIM:275900 (Orphanet:101000/e)
- GARD:5372 (Orphanet:101000)
gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen
https://github.com/monarch-initiative/mondo/issues/6878
https://github.com/monarch-initiative/mondo/issues/6752
http://identifiers.org/snomedct/230264003
http://linkedlifedata.com/resource/umls/id/C0393559
http://www.orpha.net/ORDO/Orphanet_101000
http://identifiers.org/mesh/C536858
http://purl.obolibrary.org/obo/DOID_0050886
https://omim.org/entry/275900
spastic paraplegia 20
Cross-McKusick syndrome
spastic paraplegia 20, autosomal recessive
spastic paraparesis, childhood-onset, with distal muscle wasting
spastic paraplegia, autosomal recessive, Troyer type
https://rarediseases.info.nih.gov/diseases/5372/troyer-syndrome
https://search.clinicalgenome.org/kb/conditions/MONDO:0010156