Tonic dystonia: clinical and genetic characterisation, longitudinal changes and risk factors

Tonic dystonia: clinical and genetic characterisation, longitudinal changes and risk factors - Tonic dystonia Cohort

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON56936

Enrollment

425

Registered

2009-03-27

Start date

2009-03-27

Completion date

Unknown

Last updated

2024-08-19

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

muscle tone regulation disorder

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: patients with tonic dystonia

Exclusion criteria

Exclusion criteria: - mobile dystonia - patients with a known genetic form of dystonia, e.g. DYT1-DYT17, Wilson*s disease - lesions or diseases of the central nervous system (e.g. as a result of head trauma) - implantation of drug-delivery pump

Design outcomes

Primary

Measure	Time frame
Medical history is obtained following a semi-structured interview. The primary patient group will be evaluated with the CRPS diagnose form. 2 EDTA tubes of blood (20 ml) will be collected for genetic testing only during the first visit. Several self-administered questionnaires will be completed: 1). Hospital anxiety and depression scale (HADS); 2). Tampa scale for Kinesiophobia; 3). Pain coping inventory (PCI); 4). Numeric rating Scale Pain (NRS-Pain); 5). McGill Pain Questionnaire (MPQ); 6). Dissociative experience scale (DES); 7); Somatoform dissociation questionnaire (SDQ20); 8). SCOPA AUT; 9). Radboud Skills Questionnaire; 10). Questionnaire on walking & rising; 11). Questions about profession and education (first visit) The severity and progression of the dystonia, together with the impairments on daily activities, will be measured with the DYstonia Assessment Scale (DYAS) rating scale and the Burke Fahn Marsden (BFM) scale. A rapid finger movement task is performed to test the velocity and fluency of movements (bradykinesia). Quantative sensory testing is used to assess wind-up, pain thresholds and perception to touch, temperature and vibration. Diffuse Noxious Inhibitory Control (DNIC), a test that interrogates the function of endogenous pain regulation, will also be determined. Surface temperature of hands and feet are determined with an infrared skin temperature device. The ability to accurately recognise the laterality of pictures of left and right extremities is performed with the Recognise© lateralization computer program.	—

Measure

Time frame

Medical history is obtained following a semi-structured interview. The primary patient group will be evaluated with the CRPS diagnose form. 2 EDTA tubes of blood (20 ml) will be collected for genetic testing only during the first visit. Several self-administered questionnaires will be completed: 1). Hospital anxiety and depression scale (HADS); 2). Tampa scale for Kinesiophobia; 3). Pain coping inventory (PCI); 4). Numeric rating Scale Pain (NRS-Pain); 5). McGill Pain Questionnaire (MPQ); 6). Dissociative experience scale (DES); 7); Somatoform dissociation questionnaire (SDQ20); 8). SCOPA AUT; 9). Radboud Skills Questionnaire; 10). Questionnaire on walking & rising; 11). Questions about profession and education (first visit) The severity and progression of the dystonia, together with the impairments on daily activities, will be measured with the *DYstonia Assessment Scale (DYAS)* rating scale and the *Burke Fahn Marsden* (BFM) scale. A rapid finger movement task is performed to test the velocity and fluency of movements (bradykinesia). Quantative sensory testing is used to assess wind-up, pain thresholds and perception to touch, temperature and vibration. Diffuse Noxious Inhibitory Control (DNIC), a test that interrogates the function of endogenous pain regulation, will also be determined. Surface temperature of hands and feet are determined with an infrared skin temperature device. The ability to accurately recognise the laterality of pictures of left and right extremities is performed with the Recognise© lateralization computer program.

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Countries

Netherlands

Outcome results