Autosomal recessive spastic paraplegia type 23

Orpha code: 101003OMIM code: 270750

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.

Disease data
Classification

Disease

Synonyms
Lison syndrome
Parapareza spastyczna - bielactwo nabyte - przedwczesne siwienie - charakterystyczna twarz
SPG23
Zespół Lisona
SPG23
Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome
ORPHA code
101003
OMIM code
270750
ICD10 code
G11.4
ICD11 code
-

No additional description.

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