Living with Syndromic X-linked intellectual disability Lubs type
An X-linked condition (MECP2 duplication syndrome), almost only in males, with intellectual disability, low muscle tone, and speech trouble.
Understanding Syndromic X-linked intellectual disability Lubs type
Most people have weak muscle tone in infancy, feeding difficulties, little or no speech, and muscle stiffness. Sitting and walking are delayed, and about half learn to walk. About half have seizures, which may not respond to medicine. Some lose skills they had gained. Many have repeated respiratory infections.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Moderate to severe intellectual disability
- Low muscle tone and feeding difficulties
- Little or no speech
- Delayed walking
- Seizures
- Repeated respiratory infections
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 MECP2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Rett Syndrome Research Trust and International Rett Syndrome 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: Rett Syndrome Research Trust, International Rett Syndrome 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 Rett Syndrome Research Trust 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
Changes in the MECP2 gene cause this condition, which is a duplication (extra copy) of the gene. It is X-linked, meaning the gene is on the X chromosome.
Also known as: distal duplication xq; intellectual developmental disorder, x-linked syndromic, lubs type, x-linked recessive; intellectual developmental disorder, x-linked, syndromic, lubs type; intellectual disability, x-linked, syndromic, lubs type; intellectual disability, x-linked, with recurrent respiratory infections; lubs x-linked intellectual disability syndrome
Patient organizations
- Rett Syndrome Research TrustSyndromic X-linked intellectual disability Lubs type · United States
- International Rett Syndrome FoundationSyndromic X-linked intellectual disability Lubs type · United States
- MECP2 Duplication FoundationSyndromic X-linked intellectual disability Lubs type · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Syndromic X-linked intellectual disability Lubs type.
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