Hereditary spastic paraplegia 23

Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.

Also known as: DSTYK autosomal recessive complex spastic paraplegia, Lison syndrome, SPG23, autosomal recessive complex spastic paraplegia caused by mutation in DSTYK, hereditary spastic paraplegia type 23, spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome, spastic paraplegia 23, spastic paraplegia with pigmentary abnormalities

2 clinical trials for this condition and its sub-types, 0 tagged with Hereditary spastic paraplegia 23 itself.