Living with X-linked intellectual disability-psychosis-macroorchidism syndrome
A condition with intellectual disability, mental health conditions such as bipolar disorder, movement problems, and large testes in males.
Understanding X-linked intellectual disability-psychosis-macroorchidism syndrome
The most common psychotic disorder is bipolar disorder. Other symptoms may include muscle stiffness, strong reflexes, a small head, and large testes in males. Not everyone has every symptom, but most have intellectual disability. Males are typically more affected than females, who usually have mild intellectual disability or learning disabilities.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Bipolar disorder
- Hyperactivity and irritability
- Muscle stiffness in the legs
- Tremor
- 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.
- 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.
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
PPM-X syndrome is caused by changes in the MECP2 gene and is inherited in an X-linked way.
Also known as: intellectual developmental disorder, x-linked, syndromic 13; intellectual developmental disorder, x-linked, syndromic 13, x-linked recessive; intellectual disability with psychosis, pyramidal signs, and macroorchidism; intellectual disability, x-linked, syndromic 13; intellectual disability, x-linked, syndromic type 13; lindsay burn 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-psychosis-macroorchidism syndrome.
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