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Items: 1 to 20 of 30

1.

Myoclonus

A rapid, involuntary jerk of a muscle or group of muscles. [from NCI]

MedGen UID:
10234
Concept ID:
C0027066
Sign or Symptom
2.

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
3.

Myoclonic dystonia

Myoclonus-dystonia (M-D) is a movement disorder characterized by a combination of rapid, brief muscle contractions (myoclonus) and/or sustained twisting and repetitive movements that result in abnormal postures (dystonia). The myoclonic jerks typical of M-D most often affect the neck, trunk, and upper limbs with less common involvement of the legs. Approximately 50% of affected individuals have additional focal or segmental dystonia, presenting as cervical dystonia and/or writer's cramp. Non-motor features may include obsessive-compulsive disorder (OCD), depression, anxiety, personality disorders, alcohol abuse, and panic attacks. Symptom onset is usually in childhood or early adolescence but ranges from age six months to 80 years. Most affected adults report a dramatic reduction in myoclonus in response to alcohol ingestion. M-D is compatible with an active life of normal span. [from GTR]

MedGen UID:
331778
Concept ID:
C1834570
Disease or Syndrome
4.

Dystonia

A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures. [from NCI]

MedGen UID:
140732
Concept ID:
C0393593
Disease or Syndrome
5.

Autosomal dominant inheritance

MedGen UID:
879993
Concept ID:
CN235389
Finding
6.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
7.

Mode of inheritance

The pattern in which a particular genetic trait or disorder is passed from one generation to the next. [from HPO]

MedGen UID:
353811
Concept ID:
C1708511
Genetic Function
8.

Autosomal dominant inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. [from HPO]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
9.

Alcohol

A class of compounds where a hydroxyl (OH) group is attached to single bonded hydrocarbons. Alcohols are classified according to the position of the carbon atom with the attached hydroxyl group (i.e. primary alcohols are alcohols with the OH group attached to the primary carbon atom, C1). Uses include solvents, astringents, and anti-infective activity. [from NCI]

MedGen UID:
1400
Concept ID:
C0001975
Organic Chemical; Pharmacologic Substance
10.

Ethyl alcohol

A clear, colorless liquid rapidly absorbed from the gastrointestinal tract and distributed throughout the body. It has bactericidal activity and is used often as a topical disinfectant. It is widely used as a solvent and preservative in pharmaceutical preparations as well as serving as the primary ingredient in ALCOHOLIC BEVERAGES. [from MeSH]

MedGen UID:
186
Concept ID:
C0001962
Organic Chemical; Pharmacologic Substance
11.

Segmental myoclonus

MedGen UID:
155851
Concept ID:
C0751351
Sign or Symptom
12.

Action myoclonus

MedGen UID:
155545
Concept ID:
C0751354
Sign or Symptom
13.

Sleep myoclonus

Myoclonus that occurs during the initial phases of sleep. [from HPO]

MedGen UID:
155544
Concept ID:
C0751352
Sign or Symptom
14.

Limb dystonia

A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs. [from HPO]

MedGen UID:
152944
Concept ID:
C0751093
Sign or Symptom
15.

Ballism

MedGen UID:
148467
Concept ID:
C0752196
Disease or Syndrome
16.

Polymyoclonus

MedGen UID:
148289
Concept ID:
C0751355
Sign or Symptom
17.

Eyelid myoclonus

MedGen UID:
148288
Concept ID:
C0751349
Sign or Symptom
18.

Asterixis

A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints. [from HPO]

MedGen UID:
115916
Concept ID:
C0232766
Sign or Symptom
19.

Oculopalatal myoclonus

MedGen UID:
108440
Concept ID:
C0585540
Sign or Symptom
20.

Diurnal dystonia

MedGen UID:
97954
Concept ID:
C0393610
Sign or Symptom
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