Living with X-linked intellectual disability-ataxia-apraxia syndrome
A rare X-linked condition in males with poor coordination that doesn't worsen over time, apraxia, and varying learning difficulty.
Understanding X-linked intellectual disability-ataxia-apraxia syndrome
Ataxia is poor coordination, and apraxia is trouble planning movements. Intellectual disability varies, and there can be trouble with visual and spatial tasks. Seizures, clubfoot, and large testes have also been linked. Female carriers can have partial signs. It usually shows in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor coordination (ataxia)
- Trouble planning movements (apraxia)
- Mild intellectual disability
- Clubfoot
- 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 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
National Ataxia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Ataxia 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 National Ataxia Foundation
- 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 changes in genes (variants) cause this condition and it follows X-linked inheritance. It doesn't name a gene.
Also known as: x-linked intellectual disability with ataxia and apraxia syndrome
Patient organizations
- National Ataxia FoundationAtaxia · United States
Broader rare-disease groups
- 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-ataxia-apraxia syndrome.
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