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Horizontal gaze palsy with progressive scoliosis

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a condition impacting both eyesight and spinal alignment. Individuals with HGPPS experience difficulty moving their eyes from side to side, a condition known as horizontal gaze palsy. Consequently, they compensate by turning their heads to follow moving objects. Typically, their ability to move their eyes up and down (vertical eye movements) remains unaffected.

Scoliosis, an abnormal sideways curvature of the spine, develops early in life (infancy or childhood) in individuals with HGPPS. This curvature is usually moderate to severe and worsens as time goes on. Due to the potential for pain and movement limitations caused by the abnormal spine position, surgical intervention is often required at a young age.

Inheritance:

HGPPS follows an autosomal recessive inheritance pattern. This means that for an individual to develop the condition, they must inherit a mutated copy of the responsible gene from both parents. While each parent carries one copy of the mutated gene, they usually do not exhibit any signs or symptoms of HGPPS themselves.

Related Conditions:

Familial horizontal gaze palsy with progressive scoliosis Familial idiopathic scoliosis associated with congenital encephalopathy Familial infantile scoliosis associated with bilateral paralysis of conjugate gaze Gaze palsy familial horizontal with progressive scoliosis HGPPS Ophthalmoplegia progressive external and scoliosis

Category:

Rare

Associated RSIDs:

NCBI dbSNP

Source:

View on MedlinePlus

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