Living with X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
A rare X-linked condition with severe learning disability, muscle stiffness, eye disease, and too much urine from diabetes insipidus.
Understanding X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
Diabetes insipidus is a hormone problem that causes too much urine and thirst. GARD also describes distinct facial features, short stature, and brain differences on MRI. Signs begin during pregnancy or the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Profound intellectual disability
- Eye disease (retinal dystrophy)
- Diabetes insipidus
- Stiff arms and legs
- Seizures
- Slow growth before birth
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.
- 3Consider genetic testing
Changes in PRPS1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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
This condition is caused by changes in the PRPS1 gene and follows X-linked inheritance.
Also known as: x-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency; x-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
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 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome.
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