Cervical Dystonia, Movement Disorders, Focal Dystonia, Signs and Symptoms, Nervous System Diseases, Neurologic Manifestations, Neuromuscular Manifestations, Spasmodic Torticollis
Conditions
Brief summary
This study will examine the prevalence of four previously identified non-motor markers in a population of cervical dystonia patients, unaffected family members, and healthy volunteers in an attempt to identify a distinct combination of non-motor symptoms that may be indicative of disease development.
Detailed description
The primary aim of this study is to identify the prevalence of four previously identified non-motor markers - (1) spatial discrimination threshold, (2) temporal discrimination threshold, (3) vibration-induced illusion of movement, and (4) kinesthesia - in a population of cervical dystonia patients, unaffected family members, and healthy volunteers (control group). Consenting participants will receive a neurological examination performed by a movement disorders neurologist, followed by an assessment of the four non-motor symptoms. The investigators hypothesize that a distinct combination of non-motor symptoms will be more prevalent in the CD group, and therefore this set of symptoms may be indicative of disease development. This combination will be identified through analysis of the concurrence of the non-motor features across the three groups of participants. This study will fill an important unmet need, as to the investigators' knowledge there are no published studies assessing the comorbid presentation of these four non-motor symptoms in a single cervical dystonia population. The exploration of a distinct combination of concurrent non-motor symptoms as a marker for the development of cervical dystonia will improve the ability of movement disorders neurologists to diagnose the condition. The results of this study will facilitate the investigators' longstanding aim of improving rates of cervical dystonia diagnosis. Cervical dystonia is currently diagnosed based upon the exclusion of other movement disorders; therefore, characterization of non-motor features in cervical dystonia patients will help to refine the diagnostic criteria for this condition. This investigation will also improve understanding of the factors associated with CD. Future studies can examine the source of these associated factors in order to help understand the cause of CD, since the etiology is currently unknown.
Interventions
DIAGNOSTIC_TESTNeurological Examination
The family members and healthy volunteers will undergo elements of the neurological examination during which the movement disorders neurologist will look specifically for the presence of cervical dystonia and other sensory abnormalities. If the subject is found to have cervical dystonia or any other sensory abnormalities, the subject will be excluded from the study.
DIAGNOSTIC_TESTAssessment of Non-Motor Features
All subjects will be assessed for four non-motor symptoms, including (1) spatial discrimination threshold, (2) temporal discrimination threshold, (3) vibration-induced illusion of movement, and (4) kinesthesia.
Sponsors
Vanderbilt University Medical Center
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* Have a diagnosis of cervical dystonia, OR a first order relation of a Vanderbilt patient diagnosed with cervical dystonia, OR a healthy volunteer who is neurologically normal * Capable of participating in all study procedures * Willing and able to provide written or verbal informed consent.
Exclusion criteria
* Subjects for whom participation in the study may cause medical harm * Subjects who are not considered competent to make their own medical decisions * Subjects who display sensory deficits during a short screening examination prior to study enrollment
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Prevalence of spatial discrimination threshold in cervical dystonia patients, unaffected family members, and healthy volunteers | Up to 6 months after consent is obtained | For participants in all groups, the investigators will examine the prevalence of spatial discrimination threshold. Prevalence of spatial discrimination threshold will be determined with a task using Johnson-Van-Boven-Phillips (JVP) domes. The spatial discrimination threshold will be recorded as the mean of both hands at the 75% level of accuracy. The research coordinator will report prevalence of spatial discrimination threshold as a descriptive statistic. |
| Prevalence of temporal discrimination threshold in cervical dystonia patients, unaffected family members, and healthy volunteers | Up to 6 months after consent is obtained | For participants in all groups, the investigators will examine the prevalence of temporal discrimination threshold. Prevalence of temporal discrimination threshold will be determined with a visual-visual discrimination task.The research coordinator will report prevalence of temporal discrimination threshold as a descriptive statistic. |
| Prevalence of vibration-induced illusion of movement in cervical dystonia patients, unaffected family members, and healthy volunteers | Up to 6 months after consent is obtained | For participants in all groups, the investigators will examine the prevalence of vibration-induced illusion of movement. Prevalence of vibration-induced illusion of movement will be determined by recording the change in displacement of the tracking arm during a vibration-induced illusion of movement task. The research coordinator will report prevalence of vibration-induced illusion of movement as a descriptive statistic. |
| Prevalence of impaired kinesthesia in cervical dystonia | Up to 6 months after consent is obtained | For participants in all groups, the investigators will examine the prevalence of impaired kinesthesia. Kinesthesia will be determined by a neurologist during the neurological examination. The research coordinator will report prevalence of impaired kinesthesia as a descriptive statistic. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Probability of concurrence of multiple non-motor features | Up to 6 months after consent is obtained | The concurrence of multiple non-motor symptoms will be assessed using a multinomial logistic regression model to determine if a distinct combination of non-motor symptoms is more prevalent in the cervical dystonia patient group than in the unaffected family members or healthy volunteer groups. |
Other
| Measure | Time frame | Description |
|---|---|---|
| Potential new medical indicators of cervical dystonia | Up to 6 months after consent is obtained | Analysis of medical history and specific elements of the neurological examination will be performed to identify additional symptoms and environmental factors that are more prevalent in the CD patient population than in healthy controls and unaffected family members. Emphasis will be placed on sensory tricks, as previous studies and clinical experience have shown that patients often use sensory tricks such as touching the face, hand, or neck to temporarily relieve muscle contraction. Through exploration of potential new indicators, the investigators hope to progress the long-term goal of improving the rate of cervical dystonia diagnosis. |
| Potential new demographic indicators of cervical dystonia | Up to 6 months after consent is obtained | Analysis of demographic factors will be performed to identify additional environmental factors that are more prevalent in the CD patient population than in healthy controls and unaffected family members. Through exploration of potential new indicators, the investigators hope to progress the long-term goal of improving the rate of cervical dystonia diagnosis. |
Countries
United States
Outcome results
None listed