Troyer syndrome

Summary
Synonym
  • SPG20
  • autosomal recessive spastic paraplegia 20
  • autosomal recessive spastic paraplegia Troyer type
  • autosomal recessive spastic paraplegia type 20
  • childhood-onset spastic paraparesis with distal muscle wasting
  • hereditary spastic paraplegia 20
  • spastic paraplegia 20
  • spastic paraplegia type 20
Definition
A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene.
Super Class
autosomal recessive disease hereditary spastic paraplegia
Related Genes
Displaying entries 11 - 16 of 16 in total
Gene ID Gene Symbol Description Source
10908 PNPLA6 patatin like phospholipase domain containing 6
51302 CYP39A1 cytochrome P450 family 39 subfamily A member 1
57704 GBA2 glucosylceramidase beta 2
84188 FAR1 fatty acyl-CoA reductase 1
85465 SELENOI selenoprotein I
113612 CYP2U1 cytochrome P450 family 2 subfamily U member 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024