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Results: 1 to 20 of 34

1.

MedGen UID:
149279
Concept ID:
C0743332
2.

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
3.

Focal dystonia

A type of `dystonia` (HP:0001332) that is localized to a specific part of the body. [from HPO]

MedGen UID:
505611
Concept ID:
CN003872
Finding
4.

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
5.

Focal dystonia

Focal dystonia, the most common form of dystonia, is often task-specific and referred to as FTSD. Specific learned motor tasks, such as writing or playing a musical instrument, can trigger muscle spasms and interfere with performance while other actions are unaffected. FTSD has a frequency of 1 in 3,400 in the general population but increases to 1 in 200 among musicians (Pullman and Hristova, 2005). [from OMIM]

MedGen UID:
370752
Concept ID:
C1969807
Disease or Syndrome
6.

Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset. [from MeSH]

MedGen UID:
140732
Concept ID:
C0393593
7.

Cramp

sustained and usually painful contraction of muscle fibers. [from CRISP]

MedGen UID:
7749
Concept ID:
C0026821
Sign or Symptom
8.

Musician's Dystonia

MedGen UID:
442342
Concept ID:
C2749929
Disease or Syndrome
9.

Organic writer's cramp

MedGen UID:
57821
Concept ID:
C0154676
Disease or Syndrome
10.

Sporadic disorder

MedGen UID:
548249
Concept ID:
C0277552
Disease or Syndrome
11.

Writer's cramp

A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument. [from HPO]

MedGen UID:
425097
Concept ID:
CN002139
Finding
12.

Phenotypic variability

MedGen UID:
381249
Concept ID:
C1853719
Finding
13.

Sporadic

MedGen UID:
64410
Concept ID:
C0205422
14.

Disease Attributes

Clinical characteristics of disease or illness. [from MeSH]

MedGen UID:
199876
Concept ID:
C0752357
Disease or Syndrome
15.

Neuromuscular Manifestations

Signs and symptoms associated with diseases of the muscle, neuromuscular junction, or peripheral nerves. [from MeSH]

MedGen UID:
199852
Concept ID:
C0752252
Sign or Symptom
16.

MedGen UID:
152944
Concept ID:
C0751093
17.

MedGen UID:
148467
Concept ID:
C0752196
18.

Asterixis

A tremor of the wrist that is observed when the wrist is extended. [from NCI]

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

Diurnal dystonia

MedGen UID:
97954
Concept ID:
C0393610
Sign or Symptom
20.

Paroxysmal dystonia

MedGen UID:
97951
Concept ID:
C0393588
Sign or Symptom

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