Details of Disease

General Information of Disease (ID: DIS81BEU)

Disease Name Cervical dystonia
Synonyms spasmodic torticollis
Disease Class 8A02: Dystonic disorder
Definition
Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery.
Disease Hierarchy
DIS26D7O: Focal dystonia
DIS81BEU: Cervical dystonia
ICD Code
ICD-11
ICD-11: 8A02.0Y
Disease Identifiers
MONDO ID
MONDO_0000481
MESH ID
D014103
UMLS CUI
C0152116
MedGen ID
101818
SNOMED CT ID
74333002

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 1 Discontinued Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
E2101 DMI9NZ3 Discontinued in Phase 1 Small molecular drug [1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DRD5 TTS2PH3 moderate Biomarker [2]
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References

1 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800013610)
2 Cervical dystonia is associated with a polymorphism in the dopamine (D5) receptor gene.J Neurol Neurosurg Psychiatry. 2001 Aug;71(2):262-4. doi: 10.1136/jnnp.71.2.262.