Autosomal recessive spastic paraplegia type 20 (Q99404)

Autosomal recessive spastic paraplegia also known as Troyer syndrome that is caused by mutations in the SPG20 gene (13q13.1), which encodes the protein spartin. Characterized by infant onset of progressive spastic paraparesis associated with distal amyotrophy, pseudobulbar palsy, motor and cognitive delays, dysarthria, dysdiadochokinesia, mild intention tremor, short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis).