Living with X-linked intellectual disability-hypotonia-movement disorder syndrome
A genetic nervous system condition with learning difficulty, low muscle tone, unusual movements, and behavior differences.
Understanding X-linked intellectual disability-hypotonia-movement disorder syndrome
It can cause intellectual disability, vision problems, a wider walking stance, involuntary movements, restlessness, stiff muscles, and overall low muscle tone. Some people have behavior differences like those linked with autism or aggression. Symptoms usually begin in childhood or the teen years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Low muscle tone (hypotonia)
- Unusual involuntary movements
- Wide-based walk
- Autistic behavior or aggression
- Vision problems
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.
- 3Consider genetic testing
Changes in DDX3X 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); 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 DDX3X Foundation and other patient organizations
- 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 DDX3X gene and is inherited in an X-linked way.
Also known as: x-linked intellectual disability, hypotonia, movement disorder syndrome
Patient organizations
- DDX3X FoundationX-linked intellectual disability-hypotonia-movement disorder syndrome · United States
- Simons SearchlightX-linked intellectual disability-hypotonia-movement disorder syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked intellectual disability-hypotonia-movement disorder syndrome.
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