Dystonia 1, Torsion, Autosomal Dominant (DYT1)

Alias:

Dystonia Musculorum Deformans

Early-Onset Generalized Limb-Onset Dystonia

Early-Onset Torsion Dystonia

Eotd

Early-Onset Generalized Torsion Dystonia

Dystonia Musculorum Deformans 1

Early-Onset Isolated Dystonia

Early-Onset Primary Dystonia

Oppenheim Dystonia

Dyt1

Idiopathic Torsion Dystonia

Oppenheim's Dystonia

Dystonia-1, Torsion

Torsion Dystonia 1

Dystonia, Torsion, Early Onset, Type 1

Autosomal Dominant Torsion Dystonia 1

Dystonia Musculorum Deformans Type 1

Dystonia 3, Torsion, X-Linked

Early Onset Torsion Dystonia

Primary Torsion Dystonia

Oppenheim-Ziehen Disease

Dystonia-1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Dystonia 1, Torsion, Autosomal Dominant, also known as dystonia musculorum deformans, is related to dystonia 6, torsion and dystonia 27, and has symptoms including dystonia, myoclonus and torticollis. An important gene associated with Dystonia 1, Torsion, Autosomal Dominant is TOR1A (Torsin Family 1 Member A), and among its related pathways/superpathways are Alpha-synuclein signaling and erythro-tetrahydrobiopterin biosynthesis II. The drug Botulinum Toxins has been mentioned in the context of this disorder. Affiliated tissues include globus pallidus and brain, and related phenotypes are gait disturbance and hypertonia

Related ID：

MALACARDS：DYS191

OMIM：128100

MESH：D004422