/Troyer syndrome

Troyer syndrome

Rare Disease

MONDO:0010156

Also Known As

SPG20Troyer syndromeautosomal recessive spastic paraplegia 20autosomal recessive spastic paraplegia Troyer typeautosomal recessive spastic paraplegia type 20childhood-onset spastic paraparesis with distal muscle wastingchildhood-onset spastic paraparesis-distal muscle wasting syndromehereditary spastic paraplegia 20spastic paraplegia 20 (Troyer syndrome)spastic paraplegia type 20Cross-McKusick syndromespastic paraparesis, childhood-onset, with distal muscle wastingspastic paraplegia 20spastic paraplegia 20, autosomal recessivespastic paraplegia, autosomal recessive, Troyer type

Definition

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.