Details of Disease
General Information of Disease (ID: DISCA0OX)
| Disease Name | Horizontal gaze palsy with progressive scoliosis | |||||
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| Synonyms |
gaze palsy, familial horizontal, with progressive scoliosis; gaze palsy, horizontal, with progressive scoliosis; ophthalmoplegia, progressive external, and scoliosis; progressive external ophthalmoplegia and scoliosis; HGPPS
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| Definition |
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.
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