Living with Spastic paraplegia-glaucoma-intellectual disability syndrome
A rare genetic condition affecting movement, vision and thinking, found in two families.
Understanding Spastic paraplegia-glaucoma-intellectual disability syndrome
It has been found in two families, and in one of them the parents were related. Symptoms include legs that slowly become stiffer and weaker, high pressure in the eyes (glaucoma) that can lead to vision loss, and intellectual disability. It usually starts in adulthood.
Signs & symptoms
GARD lists these among the most common symptoms:
- Stiff, weak legs
- Glaucoma (high eye pressure)
- Vision loss
- Intellectual disability
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 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.
- 4Connect with expert centers
Spastic Paraplegia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Spastic Paraplegia Foundation
- 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 BrightFocus Foundation and other patient organizations
- 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
GARD says it is caused by a gene change inherited from each parent (autosomal recessive). It doesn't list the gene.
Patient organizations
- BrightFocus FoundationSpastic paraplegia-glaucoma-intellectual disability syndrome · United States
- Spastic Paraplegia FoundationHereditary spastic paraplegia · United States
You are more than your diagnosis
Perspectives from people navigating life with Spastic paraplegia-glaucoma-intellectual disability syndrome.
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