Troyer syndrome

Troyer syndrome is a rare genetic condition that affects movement and development. It is a form of complex hereditary spastic paraplegia, meaning that individuals with this condition experience stiffness and weakness in the legs that progressively worsen over time. The condition starts in infancy and involves challenges with motor skills and cognitive development. People with Troyer syndrome may also show signs of cerebellar involvement with mild problems in speech and coordination. In addition, subtle skeletal abnormalities and short stature are sometimes observed. The overall presentation of symptoms makes Troyer syndrome a complex condition that impacts multiple aspects of physical and developmental health.

Common symptoms include progressive spastic paraparesis (stiffness and weakness in the legs), distal amyotrophy (muscle wasting in the hands and feet), and pseudobulbar palsy which can affect facial movement. People with this condition might also experience delays in motor and cognitive development, mild cerebellar signs such as difficulty with coordinated movements, and subtle skeletal issues like high-arched feet and mild curvature of the spine.

Troyer syndrome is caused by mutations in the SPG20 gene, which is located on chromosome 13. The condition follows an autosomal recessive pattern of inheritance, meaning that a child needs to inherit two copies of the mutated gene (one from each parent) to develop the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research for this condition is currently limited. Ongoing studies may help better understand the genetics and progression of Troyer syndrome in the future.