Living with X-linked intellectual disability, Schimke type
A genetic nervous system condition present from birth with developmental delay, movement problems, hearing loss, and small head size.
Understanding X-linked intellectual disability, Schimke type
Symptoms usually begin before birth or in infancy. People may have little or no speech, developmental delay, involuntary movements, hearing loss, and paralysis of outer eye muscles. Infants may have trouble feeding, low muscle tone, and poor head control. Females typically have milder symptoms, and some have none.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Absent speech
- Involuntary movements (dyskinesia)
- Hearing loss
- Low muscle tone and poor head control
- Poor feeding and slow weight gain in infancy
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.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); 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 says it is inherited in an X-linked way. It doesn't name a gene here.
Also known as: schimke 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, Schimke type.
Explore research for X-linked intellectual disability, Schimke type
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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