Neuronal intranuclear inclusion disease (NIID) refers to a group of rare degenerative nerve diseases. Signs and symptoms of NIID are widespread, progressive, and usually begin in childhood. NIID causes worsening of many of the body's activities, including balance, movement, talking, eating, and cognition. Currently the cause of NIID is not known. Both sporadic and familial cases have been described.
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of movement||90%|
|Neurological speech impairment||90%|
|Skeletal muscle atrophy||90%|
|Abnormal form of the vertebral bodies||50%|
|Spina bifida occulta||50%|
|Abnormality of the pharynx||7.5%|
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How might neuronal intranuclear inclusion disease affect a person over time? See answer