Living with Intellectual disability, X-linked, with or without seizures, ARX-related
A rare X-linked genetic condition (ARX-related) with learning and developmental delays and sometimes seizures.
Understanding Intellectual disability, X-linked, with or without seizures, ARX-related
It can cause delays in learning and development, and some people have seizures. Signs usually begin in infancy or early childhood. Many people have severe intellectual disability that stays about the same over time. Males and females can have it, but females often have milder symptoms or none.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability, often severe
- Flat feet
- Loss of bladder control
- Differences in the testes (dysplastic testis)
- Seizures (less common)
- Low muscle tone (less common)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 Simons Searchlight
- 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 the ARX gene are linked to this condition, which is inherited in an X-linked pattern, meaning the gene is on the X chromosome.
Also known as: arx-related intellectual disability; intellectual developmental disorder, x-linked 29; intellectual developmental disorder, x-linked 29, x-linked recessive
Patient organizations
- Simons SearchlightIntellectual disability, X-linked, with or without seizures, ARX-related · United States
You are more than your diagnosis
Perspectives from people navigating life with Intellectual disability, X-linked, with or without seizures, ARX-related.
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