Troyer syndrome

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.

Also known as: SPG20, Troyer syndrome, autosomal recessive spastic paraplegia type 20, childhood-onset spastic paraparesis-distal muscle wasting syndrome, spastic paraplegia 20 (Troyer syndrome), Cross-McKusick syndrome, spastic paraparesis, childhood-onset, with distal muscle wasting, spastic paraplegia 20

2 clinical trials for this condition and its sub-types, 0 tagged with Troyer syndrome itself.