Living with PRKAR1B-related neurodegenerative dementia with intermediate filaments
A rare genetic brain disease in adults with dementia and mild parkinsonism, including memory, language and behavior changes.
Understanding PRKAR1B-related neurodegenerative dementia with intermediate filaments
It begins in adulthood. Early signs include memory problems, short attention span, disorientation, trouble with language, stiffness, slowed movement, poor balance and behavior changes such as apathy, anxiety and delusions. GARD says parkinsonism responds poorly to the medicine levodopa.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dementia and memory problems
- Short attention span and disorientation
- Language problems
- Stiff muscles and slowed movement
- Poor balance and falls
- Apathy, anxiety and behavior changes
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 PRKAR1B 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
Changes in the PRKAR1B gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: protein kinase camp-dependent type i regulatory subunit beta-related neurodegenerative dementia with intermediate filaments
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 PRKAR1B-related neurodegenerative dementia with intermediate filaments.
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