Living with Severe X-linked intellectual disability, Gustavson type
A very rare X-linked genetic condition with severe learning challenges, small head size, vision and hearing loss, and seizures.
Understanding Severe X-linked intellectual disability, Gustavson type
People have severe intellectual disability, a small head, and slow growth after birth. They have severe vision loss or blindness from optic nerve damage and severe hearing loss. Muscle stiffness, seizures and limited joint movement can occur, along with large ears and a short, broad nose. Signs start in the newborn and infant period. GARD notes there have been no further descriptions in the medical literature since 1993.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Small head (microcephaly)
- Blindness from optic nerve damage
- Profound hearing loss
- Stiff muscles (spasticity)
- Seizures
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 RBMX 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
GARD lists changes in the RBMX gene. The condition is X-linked, meaning the gene is on the X chromosome.
Also known as: gustavson syndrome; intellectual developmental disorder with optic atrophy, deafness, and seizures; mrxsg
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 Severe X-linked intellectual disability, Gustavson type.
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