Autosomal recessive spastic paraplegia type 20 (Q99404): Difference between revisions

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Latest revision as of 16:04, 16 August 2026

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).

Language	Label	Description	Also known as
default for all languages	ID_1242316741
English	Autosomal recessive spastic paraplegia type 20	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).