Horizontal gaze palsy with progressive scoliosis
Alternate names[edit | edit source]
Progressive external ophthalmoplegia and scoliosis; HGPPS; Gaze palsy, horizontal, with progressive scoliosis ; Gaze Palsy, Familial Horizontal, With Progressive Scoliosis
Definition[edit | edit source]
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 | edit source]
- 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 | edit source]
It is inherited in an autosomal recessive manner.
Signs and symptoms[edit | edit source]
- 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 | edit source]
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
Diagnosis[edit | edit source]
Treatment[edit | edit source]
Treatment is based on the signs and symptoms present in each person.
NIH genetic and rare disease info[edit source]
Horizontal gaze palsy with progressive scoliosis is a rare disease.
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