/hereditary spastic paraplegia 23

hereditary spastic paraplegia 23

Rare Disease

MONDO:0010046

Also Known As

DSTYK autosomal recessive complex spastic paraplegiaLison syndromeSPG23autosomal recessive complex spastic paraplegia caused by mutation in DSTYKhereditary spastic paraplegia type 23spastic paraparesis-vitiligo-premature graying-characteristic facies syndromespastic paraplegia 23spastic paraplegia with pigmentary abnormalitiesSPG 23autosomal recessive spastic paraplegia type 23spastic paraparesis, vitiligo, premature graying, characteristic faciesspastic paraplegia and pigmentary abnormalitiesspastic paraplegia vitiligo premature graying and characteristic faciesspastic paraplegia vitiligo premature greying and characteristic facies

Definition

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.