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1.

Dementia

Dementia is the name for a group of symptoms caused by disorders that affect the brain. It is not a specific disease. People with dementia may not be able to think well enough to do normal activities, such as getting dressed or eating. They may lose their ability to solve problems or control their emotions. Their personalities may change. They may become agitated or see things that are not there. . Memory loss is a common symptom of dementia. However, memory loss by itself does not mean you have dementia. People with dementia have serious problems with two or more brain functions, such as memory and language. Although dementia is common in very elderly people, it is not part of normal aging. Many different diseases can cause dementia, including Alzheimer's disease and stroke. Drugs are available to treat some of these diseases. While these drugs cannot cure dementia or repair brain damage, they may improve symptoms or slow down the disease. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
99229
Concept ID:
C0497327
Finding; Mental or Behavioral Dysfunction
2.

Frontotemporal dementia

The clinical manifestations of MAPT-related disorders (MAPT-related tauopathies) are most typically those of frontotemporal dementia (FTDP-17), but also include progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), mild late-onset parkinsonism, and dementia with epilepsy. Clinical presentation of frontotemporal dementia (FTD) is variable: some present with slowly progressive behavioral changes, language disturbances, and/or extrapyramidal signs, whereas others present with rigidity, bradykinesia, supranuclear palsy, and saccadic eye movement disorders. Onset is usually between ages 40 and 60 years, but may be earlier or later. The disease progresses over a few years into profound dementia with mutism. PSP is characterized by progressive vertical gaze palsy in combination with a prominent loss of balance at early stages of the disease. With progression, axial rigidity, dysarthria, and dysphagia become prominent, often in combination with a frontal dysexecutive syndrome. CBD is a progressive neurodegenerative disorder which affects both the frontoparietal cortex and the basal ganglia, resulting in a mild to moderate dementia in combination with asymmetric parkinsonism, ideomotor apraxia, aphasia, and an alien-hand syndrome. [from GeneReviews]

MedGen UID:
83266
Concept ID:
C0338451
Disease or Syndrome
3.

Alzheimer disease

Alzheimer disease (AD) is characterized by dementia that typically begins with subtle and poorly recognized failure of memory and slowly becomes more severe and, eventually, incapacitating. Other common findings include confusion, poor judgment, language disturbance, agitation, withdrawal, and hallucinations. Occasionally, seizures, Parkinsonian features, increased muscle tone, myoclonus, incontinence, and mutism occur. Death usually results from general inanition, malnutrition, and pneumonia. The typical clinical duration of the disease is eight to ten years, with a range from one to 25 years. Approximately 25% of all AD is familial (i.e., =2 persons in a family have AD) of which approximately 95% is late onset (age >60-65 years) and 5% is early onset (age <65 years). [from GeneReviews]

MedGen UID:
1853
Concept ID:
C0002395
Disease or Syndrome
4.

Alzheimer disease

A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads. [from HPO]

MedGen UID:
505259
Concept ID:
CN002282
Finding
5.

Frontotemporal dementia

A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders. [from HPO]

MedGen UID:
505124
Concept ID:
CN001944
Finding
6.

Risk factor

Something that increases the chance of developing a disease. Some examples of risk factors for cancer are age, a family history of certain cancers, use of tobacco products, being exposed to radiation or certain chemicals, infection with certain viruses or bacteria, and certain genetic changes. [from NCI_NCI-GLOSS]

MedGen UID:
48477
Concept ID:
C0035648
Finding
7.

Neurodegeneration

Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways. [from MeSH]

MedGen UID:
17999
Concept ID:
C0027746
Cell or Molecular Dysfunction
8.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI_NCI-GLOSS]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
9.

Aphasia

Aphasia is a disorder caused by damage to the parts of the brain that control language. It can make it hard for you to read, write, and say what you mean to say. It is most common in adults who have had a stroke. Brain tumors, infections, injuries, and dementia can also cause it. The type of problem you have and how bad it is depends on which part of your brain is damaged and how much damage there is. . There are four main types:. - Expressive aphasia - you know what you want to say, but you have trouble saying or writing what you mean . - Receptive aphasia - you hear the voice or see the print, but you can't make sense of the words . - Anomic aphasia - you have trouble using the correct word for objects, places, or events . - Global aphasia - you can't speak, understand speech, read, or write . Some people recover from aphasia without treatment. Most, however, need language therapy as soon as possible. . NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
8159
Concept ID:
C0003537
Mental or Behavioral Dysfunction
10.

Disease

Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function. [from NCI]

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
11.

Corticobasal syndrome

Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction. [from ORDO]

MedGen UID:
891765
Concept ID:
CN237765
Disease or Syndrome
12.

Palsy

Muscle weakness or paralysis of neurologic origin. [from NCI]

MedGen UID:
854494
Concept ID:
C3887651
Finding
13.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
14.

Flax-dressers disease

MedGen UID:
745741
Concept ID:
C2242894
Disease or Syndrome
15.

Stokvis disease

MedGen UID:
543810
Concept ID:
C0272104
Disease or Syndrome
16.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
17.

Kuess disease

MedGen UID:
540800
Concept ID:
C0267583
Disease or Syndrome
18.

Feather-pickers disease

MedGen UID:
538598
Concept ID:
C0264481
Disease or Syndrome
19.

Grain-handlers disease

MedGen UID:
538595
Concept ID:
C0264477
Disease or Syndrome
20.

Symptoms

An indication that a person has a condition or disease. Some examples of symptoms are headache, fever, fatigue, nausea, vomiting, and pain. [from NCI_NCI-GLOSS]

MedGen UID:
306142
Concept ID:
C1457887
Sign or Symptom
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