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.
MONDO:0015150
complex hereditary spastic paraplegia
is_a
Cross-McKusick syndrome
related
SPG20
exact
Troyer syndrome
exact
autosomal recessive spastic paraplegia type 20
exact
childhood-onset spastic paraparesis-distal muscle wasting syndrome
exact
spastic paraplegia 20
related
spastic paraplegia 20 (Troyer syndrome)
exact
spastic paraplegia 20, autosomal recessive
related