Phenotypes associated with the disease Adult-onset cervical dystonia, DYT23 type (ORPHA:420492):
- Torticollis (HP:0000473): Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:420492)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:420492)
- Myoclonus (HP:0001336): Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:420492)
- Dysphonia (HP:0001618): Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:420492)
- Unsteady gait (HP:0002317). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:420492)
- Head tremor (HP:0002346): An unintentional, oscillating to-and-fro muscle movement affecting head movement. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:420492)
- Writer's cramp (HP:0002356): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:420492)
- Axial dystonia (HP:0002530): A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:420492)
- Focal dystonia (HP:0004373): A type of dystonia that is localized to a specific part of the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:420492)
- Craniofacial dystonia (HP:0012179): A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:420492)
- Neck muscle hypertrophy (HP:0012893): Muscle hypertrophy affecting the muscles of the neck. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:420492)
- Limb tremor (HP:0200085). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:420492)
- Hyperventilation (HP:0002883): Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:420492)
- Supraventricular arrhythmia (HP:0005115): A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:420492)
- Panic attack (HP:0025269): A sudden episode of intense fear in a situation where there is no danger or apparent cause. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:420492)
- Cerebellar atrophy (HP:0001272): Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:420492)
- Cerebral cortical atrophy (HP:0002120): Atrophy of the cortex of the cerebrum. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:420492)