Troyer syndrome

Disease Overview

Troyer syndrome is a neurological disorder and one of the many types of hereditary spastic paraplegia.[10177][10175] Signs and symptoms typically begin in early childhood and may include progressive muscle weakness and stiffness (spasticity) in the legs; muscle wasting in the hands and feet; paraplegia; leg contractures; developmental delays; speech difficulty; mood swings; and short stature.[10175][10176][10177] Symptoms worsen over time, with most people needing a wheelchair by their 50s or 60s.[10177][10175] Life expectancy is normal.[10176] Troyer syndrome is caused by mutations in the SPG20 gene and is inherited in an autosomal recessive manner.[10175][10176] Treatment is symptomatic and supportive.[10177]

Synonyms

• SPG20
• Spastic paraparesis, childhood-onset, with distal muscle wasting
• Spastic paraplegia, autosomal recessive, Troyer type
• Autosomal recessive spastic paraplegia type 20
• Spastic paraplegia 20, autosomal recessive
• Cross-McKusick syndrome
• Spastic paraplegia 20