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1.

Parkinson disease

Parkinsonism refers to all clinical states characterized by tremor, muscle rigidity, slowed movement (bradykinesia) and often postural instability. Parkinson disease is the primary and most common form of parkinsonism. Psychiatric manifestations, which include depression and visual hallucinations, are common but not uniformly present. Dementia eventually occurs in at least 20% of cases. The most common sporadic form of Parkinson disease manifests around age 60; however, young-onset and even juvenile presentations are seen. [from GeneReviews]

MedGen UID:
10590
Concept ID:
C0030567
Disease or Syndrome
2.

Young onset Parkinson disease

A form of Parkinson disease with age of onset between 21 and 45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints, falls and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most forms. The exact aetiology is still unknown. Gene mutations have been implicated in some cases, most cases are sporadic however familial cases have been reported in which an autosomal recessive mode of inheritance has been suggested. [from SNOMEDCT_US]

MedGen UID:
907947
Concept ID:
C4275179
Disease or Syndrome
3.

Young-onset Parkinson disease

Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms. [from ORDO]

MedGen UID:
797480
Concept ID:
CN202824
Disease or Syndrome
4.

Parkinson disease 2

Parkin type of early-onset Parkinson disease is characterized by rigidity, bradykinesia, and resting tremor. Lower-limb dystonia may be a presenting sign. Onset usually occurs between ages 20 and 40 years with an average age of onset in the early to mid-thirties. The disease is slowly progressive and disease duration of more than 50 years has been reported. Clinical signs vary; hyperreflexia is common. Dyskinesia as a result of treatment with levodopa frequently occurs. [from GeneReviews]

MedGen UID:
401500
Concept ID:
C1868675
Disease or Syndrome
5.

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
6.

Onset

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

MedGen UID:
64519
Concept ID:
C0206132
Quantitative Concept
7.

Parkinson disease 9

Parkinsonism refers to all clinical states characterized by tremor, muscle rigidity, slowed movement (bradykinesia) and often postural instability. Parkinson disease is the primary and most common form of parkinsonism. Psychiatric manifestations, which include depression and visual hallucinations, are common but not uniformly present. Dementia eventually occurs in at least 20% of cases. The most common sporadic form of Parkinson disease manifests around age 60; however, young-onset and even juvenile presentations are seen. [from GeneReviews]

MedGen UID:
338281
Concept ID:
C1847640
Disease or Syndrome
8.

Parkinson Disease, Juvenile

MedGen UID:
155699
Concept ID:
C0752105
Disease or Syndrome
9.

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
10.

Atrophy

Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes. [from MeSH]

MedGen UID:
83084
Concept ID:
C0333641
Pathologic Function
11.

Visual hallucinations

Optical perception of an object, person or event in the absence of a corresponding stimulus. [from NCI]

MedGen UID:
66688
Concept ID:
C0233763
Sign or Symptom
12.

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
13.

Paresis

A slight or incomplete paralysis. [from NCI]

MedGen UID:
10589
Concept ID:
C0030552
Sign or Symptom
14.

Levodopa

The naturally occurring form of DIHYDROXYPHENYLALANINE and the immediate precursor of DOPAMINE. Unlike dopamine itself, it can be taken orally and crosses the blood-brain barrier. It is rapidly taken up by dopaminergic neurons and converted to DOPAMINE. It is used for the treatment of PARKINSONIAN DISORDERS and is usually given with agents that inhibit its conversion to dopamine outside of the central nervous system. [from MeSH]

MedGen UID:
9744
Concept ID:
C0023570
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
15.

Dyskinesia

A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. [from HPO]

MedGen UID:
8514
Concept ID:
C0013384
Disease or Syndrome
16.

Hallucinations

Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space. [from HPO]

MedGen UID:
6709
Concept ID:
C0018524
Mental or Behavioral Dysfunction
17.

Juvenile onset

Onset of signs or symptoms of disease between the age of 5 and 15 years. [from HPO]

MedGen UID:
871119
Concept ID:
C4025588
Temporal Concept
18.

Diffuse atrophy

MedGen UID:
689960
Concept ID:
C1265896
Pathologic Function
19.

Gaze

MedGen UID:
639948
Concept ID:
C0553544
Finding
20.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
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