Troyer syndrome
| Disorder | |
|---|---|
| OMIM #: | #275900 (Click to access OMIM database) |
| Disorder: | Troyer syndrome |
| Also known as: | SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE SPG20 SPASTIC PARAPARESIS, CHILDHOOD-ONSET, WITH DISTAL MUSCLE WASTING SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, TROYER TYPE |
| Clinical | |
| Phenotype: | distal muscle wasting, ataxia, muscle weakness, dysarthria, developmental delay, motor delay, lower limb spasticity, lower limb clonus, contractures, drooling, mild cerebellar signs, weakness and atrophy of thenar, hypothenar, and dorsal interosseous muscles |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | SPART |
| Base Change: | c.1110delA |
| Amino Acid Change: | p.Lys370Asnfs*30 |
| Last updated: | 2022-11-12 |
| References |
|---|
| Bakowska JC, Wang H, Xin B, Sumner CJ, Blackstone C. (2008) Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?. Arch Neurol 65(4):520-4. PubMed ID: 18413476 |
| Cross HE, McKusick VA. (1967) The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting. Arch Neurol 16(5):473-85. PubMed ID: 6022528 |
| Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH. (2002) SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet Aug;31(4):347-8. PubMed ID: 12134148 |
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