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1.

Autosomal Dominant Parkinsonism

MedGen UID:
148451
Concept ID:
C0752098
Disease or Syndrome
2.

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
3.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
4.

Rapidly progressive

MedGen UID:
325078
Concept ID:
C1838681
Finding
5.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI_NCI-GLOSS]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
6.

Parkinsonism

Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. [from HPO]

MedGen UID:
66079
Concept ID:
C0242422
Disease or Syndrome
7.

Progressive

Advancing in extent or severity. [from NCI]

MedGen UID:
64400
Concept ID:
C0205329
Functional Concept
8.

Abnormal degeneration

Disturbance of cell integrity and deterioration of normal tissue, cells or organs. [from NCI_CDISC]

MedGen UID:
3705
Concept ID:
C0011164
Pathologic Function
9.

Lewy bodies

Intracytoplasmic, eosinophilic, round to elongated inclusions found in vacuoles of injured or fragmented neurons. The presence of Lewy bodies is the histological marker of the degenerative changes in LEWY BODY DISEASE and PARKINSON DISEASE but they may be seen in other neurological conditions. They are typically found in the substantia nigra and locus coeruleus but they are also seen in the basal forebrain, hypothalamic nuclei, and neocortex. [from MeSH]

MedGen UID:
43126
Concept ID:
C0085200
Cell Component
10.

Urinary incontinence

Urinary incontinence (UI) is loss of bladder control. Symptoms can range from mild leaking to uncontrollable wetting. It can happen to anyone, but it becomes more common with age. Women experience UI twice as often as men. Most bladder control problems happen when muscles are too weak or too active. If the muscles that keep your bladder closed are weak, you may have accidents when you sneeze, laugh or lift a heavy object. This is stress incontinence. If bladder muscles become too active, you may feel a strong urge to go to the bathroom when you have little urine in your bladder. This is urge incontinence or overactive bladder. There are other causes of incontinence, such as prostate problems and nerve damage. Treatment depends on the type of problem you have and what best fits your lifestyle. It may include simple exercises, medicines, special devices or procedures prescribed by your doctor, or surgery. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
22579
Concept ID:
C0042024
Finding; Pathologic Function
11.

Gliosis

Gliosis is the focal proliferation of glial cells in the central nervous system. [from HPO]

MedGen UID:
4899
Concept ID:
C0017639
Pathologic Function
12.

Dystonia

An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. [from HPO]

MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
13.

Lewy bodies

MedGen UID:
892415
Concept ID:
C4020711
14.

Neuronal loss in central nervous system

MedGen UID:
342515
Concept ID:
C1850496
Finding
15.

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
16.

Upper motor neuron dysfunction

A disorder characterized by dysfunction of the corticospinal (pyramidal) tracts of the spinal cord. Symptoms include an increase in the muscle tone in the lower extremities, hyperreflexia, positive Babinski and a decrease in fine motor coordination. [from NCI_CTCAE]

MedGen UID:
264183
Concept ID:
C1504405
Disease or Syndrome
17.

Dystonia

Dystonia is a movement disorder that causes involuntary contractions of your muscles. These contractions result in twisting and repetitive movements. Sometimes they are painful. Dystonia can affect just one muscle, a group of muscles or all of your muscles. Symptoms can include tremors, voice problems or a dragging foot. Symptoms often start in childhood. They can also start in the late teens or early adulthood. Some cases worsen over time. Others are mild. Some people inherit dystonia. Others have it because of another disease. Researchers think that dystonia may be due to a problem in the part of the brain that handles messages about muscle contractions. There is no cure. Doctors use medicines, Botox injections, surgery, physical therapy, and other treatments to reduce or eliminate muscle spasms and pain. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
140732
Concept ID:
C0393593
Disease or Syndrome
18.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
19.

Unrelated

Not connected or associated e.g. by kinship. [from NCI]

MedGen UID:
99027
Concept ID:
C0445356
Finding
20.

Onset

The age group in which disease manifestations appear. [from HPO]

MedGen UID:
64519
Concept ID:
C0206132
Quantitative Concept
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