Horizontal gaze palsy with progressive scoliosis

Alternate names

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

Definition

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

• 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

Autosomal recessive inheritance, a 25% chance

It is inherited in an autosomal recessive manner.

Signs and symptoms

• 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

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

• Horizontal supranuclear gaze palsy
• Kyphosis(Hunched back)
• Scoliosis

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

Treatment

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

NIH genetic and rare disease info

• NIH info on Horizontal gaze palsy with progressive scoliosis

Horizontal gaze palsy with progressive scoliosis is a rare disease.