Living with Horizontal gaze palsy with progressive scoliosis
A genetic condition that affects side-to-side eye movement from birth and causes a curved spine that gets worse over time.
Understanding Horizontal gaze palsy with progressive scoliosis
People cannot move their eyes side to side from birth, so they turn their head to follow objects. Up-and-down eye movement is typically normal. Scoliosis develops between infancy and childhood and tends to worsen. It can be painful, and may need bracing or surgery. Brain imaging shows differences along the midline. Most people have normal intelligence, but mild intellectual disability can occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cannot move eyes side to side
- Curved spine (scoliosis)
- Rounded upper back (kyphosis)
- Crossed eyes (strabismus)
- Fast, shaky eye movements (nystagmus)
- Low muscle tone (hypotonia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: familial infantile scoliosis associated with bilateral paralysis of conjugate gaze; gaze palsy, familial horizontal, with progressive scoliosis; hgpps; hgpps - horizontal gaze palsy with progressive scoliosis; progressive external ophthalmoplegia and scoliosis
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Horizontal gaze palsy with progressive scoliosis.
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