Living with Neuronal intranuclear inclusion disease
A slowly worsening nervous system condition that can affect balance, movement, thinking, and behavior at different ages.
Understanding Neuronal intranuclear inclusion disease
NIID may affect any part of the nervous system and various organs. People may have trouble with balance, movement, thinking, communication, and behavior. Limb weakness and poor coordination are more common in children. Dementia is more common in people diagnosed as adults. It is caused by abnormal masses (inclusions) inside nerve cells.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor coordination (ataxia)
- Memory and thinking decline (dementia)
- Slurred speech (dysarthria)
- Behavior changes
- Seizures
- Curved spine (scoliosis)
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 NOTCH2NLC 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
National Ataxia Foundation, The Foundation for Peripheral Neuropathy and Dysautonomia International 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: National Ataxia Foundation, The Foundation for Peripheral Neuropathy, Dysautonomia International
- 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 National Ataxia 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
A genetic change in the NOTCH2NLC gene has been found to cause NIID. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: niid
Patient organizations
- National Ataxia FoundationNeuronal intranuclear inclusion disease · United States
- The Foundation for Peripheral NeuropathyNeuronal intranuclear inclusion disease · United States
- Dysautonomia InternationalNeuronal intranuclear inclusion disease · United States
You are more than your diagnosis
Perspectives from people navigating life with Neuronal intranuclear inclusion disease.
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