Living with Early-onset parkinsonism-intellectual disability syndrome
An X-linked condition in males with intellectual disability from infancy and early-onset parkinsonism before age 45.
Understanding Early-onset parkinsonism-intellectual disability syndrome
Infants have delays in development, thinking difficulties, and a larger head size. The intellectual disability does not get worse over time. Parkinsonism, with stiffness and slowed movement, starts early, before age 45. It occurs in male patients.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Stiffness (rigidity)
- Changes in movement
- Larger than average head (macrocephaly)
- Seizures
- Crossed eyes (strabismus)
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 RAB39B 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
American Parkinson Disease Association, Parkinson's Foundation and Parkinson & Movement Disorder Alliance 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: American Parkinson Disease Association, Parkinson's Foundation, Parkinson & Movement Disorder Alliance
- 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 American Parkinson Disease Association 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
GARD says changes in the RAB39B gene cause this condition. It is X-linked, and it occurs in male patients.
Also known as: early onset parkinsonism and intellectual disability syndrome; laxova brown hogan syndrome; laxova opitz syndrome; laxova-opitz syndrome; waisman syndrome; waisman syndrome, x-linked recessive
Patient organizations
- American Parkinson Disease AssociationEarly-onset parkinsonism-intellectual disability syndrome · United States
- Michael J. Fox Foundation for Parkinson's ResearchEarly-onset parkinsonism-intellectual disability syndrome · United States
- Parkinson's FoundationEarly-onset parkinsonism-intellectual disability syndrome · United States
- Parkinson & Movement Disorder AllianceParkinsonism · United States
You are more than your diagnosis
Perspectives from people navigating life with Early-onset parkinsonism-intellectual disability syndrome.
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