Autosomal recessive spastic paraplegia type 20

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 <i>SPG20</i> gene (13q13.1), which encodes the protein spartin.

Small hand

Disproportionately small hand.

Total: 1

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PMID (PMCID)
10463356	FEMALE	Adult
	Troyer syndrome: a combination of central brain abnormality and motor neuron disease?
	Auer-Grumbach M, Fazekas F, Radner H, Irmler A, Strasser-Fuchs S, Hartung HP. J Neurol. 1999;246(7):556-61.
	A variant with the additional features of severe atrophy of the small hand muscles, dysarthria, mental retardation, and short stature has been termed Troyer syndrome (MIM#275900) after the name of Old Order Amish families suffering from these symptoms.