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.

Spastic diplegia

Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.

合計: 1

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PMID (PMCID)
1261070	MIXED_SAMPLE	Child
	Familial spastic paraplegia with distal muscle wasting in the Old Order Amish; atypical Troyer syndrome or "new" syndrome.
	Neuhauser G, Wiffler C, Opitz JM. Clin Genet. 1976;9(3):315-23.
	Brothers in a Wisconsin Old Order Amish family are reported with spastic diplegia, mental retardation, behavioral disorder and shortness of stature; the condition apparently is not progressive, and may be a "new" syndrome but could also represent a variant of the Troyer syndrome.