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Regulation of Transcription Ontology
Last uploaded:
December 4, 2018
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| Preferred Name | Dystonia 5 | |
| Synonyms |
DYT5 |
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| Definitions |
(DYT5) - A DOPA-responsive dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT5 typically presents in childhood with walking problems due to dystonia of the lower limbs and worsening of the dystonia towards the evening. It is characterized by postural and motor disturbances showing marked diurnal fluctuation. Torsion of the trunk is unusual. Symptoms are alleviated after sleep and aggravated by fatigue and exercise. There is a favorable response to L-DOPA without side effects. |
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| ID |
http://identifiers.org/omim/128230 |
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| altLabel |
DYT5
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| definition |
(DYT5) - A DOPA-responsive dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT5 typically presents in childhood with walking problems due to dystonia of the lower limbs and worsening of the dystonia towards the evening. It is characterized by postural and motor disturbances showing marked diurnal fluctuation. Torsion of the trunk is unusual. Symptoms are alleviated after sleep and aggravated by fatigue and exercise. There is a favorable response to L-DOPA without side effects.
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| id |
OMIM:128230
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| notation |
OMIM:128230
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| prefLabel |
Dystonia 5
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| subClassOf |
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