Living with Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
A rare genetic condition with stiff muscles in all four limbs, vision loss from retina damage and profound learning challenges.
Understanding Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
People have stiff muscles in all four limbs that don't get worse over time, a retina disease called retinitis pigmentosa, and intellectual disability. Hearing loss may also be present. GARD notes there have been no further descriptions in the medical literature since 1976. It starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff muscles in all four limbs
- Severely reduced vision
- Rod-cone dystrophy (retina disease)
- Profound intellectual disability
- Hearing loss from infancy
- Loss of skills already learned
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.
Care & treatment
- Care team
- 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
GARD doesn't list a gene. A child inherits a changed copy of a gene from each parent (autosomal recessive).
Also known as: spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome; spastic quadriplegia, retinitis pigmentosa, and impaired intellectual development
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 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome.
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