Horizontal gaze palsy with progressive scoliosis

From Food & Medicine Encyclopedia

Alternate names[edit]

Progressive external ophthalmoplegia and scoliosis; HGPPS; Gaze palsy, horizontal, with progressive scoliosis ; Gaze Palsy, Familial Horizontal, With Progressive Scoliosis

Definition[edit]

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis).

Cause[edit]

  • HGPPS is caused by changes (mutations) in the ROBO3 gene.
  • This gene provides instructions for making a protein that is important for the normal development of certain nerve pathways in the brain.
  • The ROBO3 protein plays a important role in ensuring that motor and sensory nerve pathways cross over in the brainstem.
  • In people with HGPPS, these pathways do not cross over, but stay on the same side of the body.
  • Researchers believe that this miswiring in the brainstem is the underlying cause of the eye movement abnormalities associated with the disorder.
  • The cause of progressive scoliosis in HGPPS is unclear.

Inheritance[edit]

Autosomal recessive inheritance, a 25% chance

It is inherited in an autosomal recessive manner.

Signs and symptoms[edit]

  • This condition affects vision and also causes an abnormal curvature of the spine (scoliosis).
  • People with this condition are unable to move their eyes side-to-side (horizontally) and must turn their head instead of moving their eyes to track moving objects.
  • Scoliosis develops in infancy or childhood and worsens over time.
  • Scoliosis can be painful and may interfere with movement so it is often treated with surgery early in life.

Clinicl presentation[edit]

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

30%-79% of people have these symptoms

  • Cognitive impairment(Abnormality of cognition)
  • Nystagmus(Involuntary, rapid, rhythmic eye movements)
  • Short neck(Decreased length of neck)

5%-29% of people have these symptoms

  • Seizure
  • Sensorineural hearing impairment

Diagnosis[edit]

Treatment[edit]

Treatment is based on the signs and symptoms present in each person.

NIH genetic and rare disease info[edit]

Horizontal gaze palsy with progressive scoliosis is a rare disease.

Rare and genetic diseases

Rare diseases - Horizontal gaze palsy with progressive scoliosis

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