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Results: 1 to 20 of 75

1.

Dopamine

A monoamine compound with positive inotropic activity. Dopamine is a naturally occurring catecholamine formed by decarboxylation of dehydroxyphenylalanine and a precursor of norepinephrine and epinephrine. Dopamine binds to alpha-1 and beta-1 adrenergic receptors. Mediated through myocardial beta-1 adrenergic receptors, dopamine increase heart rate and force, thereby increasing cardiac output. Alpha-1 adrenergic receptor stimulation on vascular smooth muscle, leads to vasoconstriction and results in an increase in systemic vascular resistance. Stimulation of dopaminergic receptors in renal vasculature, leads to renal blood vessel dilation, and an increase in glomerular filtration rate, renal blood flow, sodium excretion, and urine output. [from NCI]

MedGen UID:
41644
Concept ID:
C0013030
Pharmacologic Substance
2.

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]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
3.

Infantile Parkinsonism-dystonia

Infantile parkinsonism-dystonia, also known as dopamine transporter deficiency syndrome (DTDS), is an autosomal recessive complex motor neurologic disorder with onset in infancy. Affected individuals show hyperkinesia with orolingual and limb dyskinesia, dystonia, and chorea, or hypokinesia with parkinsonian features, such as bradykinesia, rigidity, and tremor. Other features may include axial hypotonia, pyramidal tract signs, and eye movement abnormalities. Many patients are misdiagnosed as having cerebral palsy. Cognitive function appears to be less severely affected, but most patients die in the teenage years. There is no effective treatment. Laboratory studies show an increased ratio of homovanillic acid (HVA) to 5-hydroxyindoleacetic acid (5-HIAA) in cerebrospinal fluid (CSF), which represents an increase in dopamine metabolites (review by Kurian et al., 2011). For an overlapping phenotype, see tyrosine hydroxylase deficiency (605407), also known as autosomal recessive Segawa syndrome. [from OMIM]

MedGen UID:
413468
Concept ID:
C2751067
Disease or Syndrome
4.

Misdiagnosis

Incorrect conclusion as to source or cause of illness. [from MeSH]

MedGen UID:
146837
Concept ID:
C0679838
Finding
5.

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
6.

Dystonia

Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive movements and/or postures. Dystonic movements are typically patterned and twisting, and may be associated with tremor. Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation. Dystonia can be classified clinically according to age of onset, body distribution, temporal pattern, and associated features (i.e., isolated dystonia – in which it is the only motor feature except tremor; combined dystonia – in which another movement disorder is present; or complex dystonia – in which other neurologic or systemic manifestations are present). [from GeneReviews]

MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
7.

Cocaine

Cocaine is a white powder. It can be snorted up the nose or mixed with water and injected with a needle. Cocaine can also be made into small white rocks, called crack. Crack is smoked in a small glass pipe. Cocaine speeds up your whole body. You may feel full of energy, happy, and excited. But then your mood can change. You can become angry, nervous, and afraid that someone's out to get you. You might do things that make no sense. After the high of the cocaine wears off, you can crash and feel tired and sad for days. You also get a strong craving to take the drug again to try to feel better. No matter how cocaine is taken, it is dangerous. Some of the most common serious problems include heart attack and stroke. You are also at risk for HIV/AIDS and hepatitis, from sharing needles or having unsafe sex. Cocaine is more dangerous when combined with other drugs or alcohol. It is easy to lose control over cocaine use and become addicted. Then, even if you get treatment, it can be hard to stay off the drug. People who stopped using cocaine can still feel strong cravings for the drug, sometimes even years later. NIH: National Institute on Drug Abuse.  [from MedlinePlus]

MedGen UID:
3135
Concept ID:
C0009170
Pharmacologic Substance
8.

Cerebral palsy

Cerebral palsy is a group of disorders that affect a person's ability to move and to maintain balance and posture. The disorders appear in the first few years of life. Usually they do not get worse over time. People with cerebral palsy may have difficulty walking. They may also have trouble with tasks such as writing or using scissors. Some have other medical conditions, including seizure disorders or mental impairment. . Cerebral palsy happens when the areas of the brain that control movement and posture do not develop correctly or get damaged. Early signs of cerebral palsy usually appear before 3 years of age. Babies with cerebral palsy are often slow to roll over, sit, crawl, smile, or walk. Some babies are born with cerebral palsy; others get it after they are born. . There is no cure for cerebral palsy, but treatment can improve the lives of those who have it. Treatment includes medicines, braces, and physical, occupational and speech therapy. . NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
854
Concept ID:
C0007789
Disease or Syndrome
9.

Childhood

From 2 to 11 years of life. [from ORDO]

MedGen UID:
832642
Concept ID:
CN227394
Disease or Syndrome
10.

Infancy

From 4 weeks to 23 months of life. [from ORDO]

MedGen UID:
832100
Concept ID:
CN227393
Disease or Syndrome
11.

disease

An alteration of health status resulting from a physiopathological mechanism, and having a homogeneous clinical presentation and evolution and homogeneous therapeutic possibilities. Excludes developmental anomalies. [from ORDO]

MedGen UID:
798428
Concept ID:
CN204926
Disease or Syndrome
12.

Related

MedGen UID:
619805
Concept ID:
C0445223
Finding
13.

Detected

MedGen UID:
617726
Concept ID:
C0442726
Finding
14.

Abnormality of movement

An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. [from HPO]

MedGen UID:
506445
Concept ID:
CN116921
Finding
15.

Hyperkinesis

Motor hyperactivity with excessive movement of muscles of the body as a whole. [from HPO]

MedGen UID:
505250
Concept ID:
CN002258
Finding
16.

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:
504804
Concept ID:
CN001220
Finding
17.

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:
504793
Concept ID:
CN001191
Finding
18.

Cerebral palsy

Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems. [from HPO]

MedGen UID:
451416
Concept ID:
CN116920
Finding
19.

Parkinson disease 6, autosomal recessive early-onset

The PINK1 type of young-onset Parkinson disease is characterized by variable combinations of rigidity, bradykinesia, and rest tremor, often making it clinically indistinguishable from idiopathic Parkinson disease. Lower-limb dystonia may be a presenting sign. Onset usually occurs in the third or fourth decade. The disease is slowly progressive. Clinical signs vary; hyperreflexia may be present and abnormal behavior and/or psychiatric manifestations have been described. Dyskinesias as a result of treatment with levodopa frequently occur, as with all individuals with young-onset disease, regardless of the underlying genetic cause. [from GeneReviews]

MedGen UID:
342982
Concept ID:
C1853833
Disease or Syndrome
20.

Autosomal recessive inheritance

Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity). [from NCI]

MedGen UID:
141025
Concept ID:
C0441748

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