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Results: 11

1.

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
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:
504804
Concept ID:
CN001220
Finding
3.

Childhood

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

MedGen UID:
832642
Concept ID:
CN227394
Disease or Syndrome
4.

Dystonia 16

MedGen UID:
436979
Concept ID:
C2677567
Disease or Syndrome
5.

Dystonia 1

DYT1 early-onset primary dystonia typically presents in childhood or adolescence and only on occasion in adulthood. Dystonic muscle contractions causing posturing of a foot, leg, or arm are the most common presenting findings. Dystonia is usually first apparent with specific actions such as writing or walking. Over time, the contractions frequently (but not invariably) become evident with less specific actions and spread to other body regions. No other neurologic abnormalities are present, except for postural arm tremor. Disease severity varies considerably even within the same family. Isolated writer's cramp may be the only sign. [from GeneReviews]

MedGen UID:
338823
Concept ID:
C1851945
Disease or Syndrome
6.

Dystonia 6, torsion

Dystonia-6 is an autosomal dominant movement disorder characterized by early involvement of craniofacial muscles with secondary generalization often involving the arms, and laryngeal dystonia that causes speech difficulties (review by Djarmati et al., 2009). Blanchard et al. (2011) provided a review of dystonia-6 and the THAP1 gene. [from OMIM]

MedGen UID:
236274
Concept ID:
C1414216
Disease or Syndrome
7.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
8.

Torsion dystonia

A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078) [from MeSH]

MedGen UID:
3941
Concept ID:
C0013423
Disease or Syndrome
9.

Torsion dystonia

Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body. [from HPO]

MedGen UID:
504795
Concept ID:
CN001195
Finding
10.

Dystonia, adult-onset

MedGen UID:
199835
Concept ID:
C0752197
Disease or Syndrome
11.

Dystonia 2, torsion, autosomal recessive

Torsion dystonia-2 is an autosomal recessive neurologic disorder characterized by onset of symptoms in childhood or adolescence. 'Dystonia' is characterized by involuntary, sustained muscle contractions affecting 1 or more sites of the body; 'torsion' refers to the twisting nature of body movements observed in dystonia. DYT2 first affects distal limbs and later involves the neck, orofacial, and craniocervical regions. DYT2 is slowly progressive but mild overall (summaries by Muller and Kupke, 1990; Nemeth, 2002; Khan et al., 2003). [from OMIM]

MedGen UID:
346511
Concept ID:
C1857093
Disease or Syndrome

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