Non-Motor Features of Cervical Dystonia (CD)

NCT03471923 | Completed

• 1 other identifier: 171717
• Study Type: observational
• Target: 33
• Locations: 1 country
• Sites: 1

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.

Conditions

Cervical Dystonia; Movement Disorders; Focal Dystonia; Signs and Symptoms; Nervous System Diseases; Neurologic Manifestations; Neuromuscular Manifestations; Spasmodic Torticollis

Outcome Measures

Primary Outcomes (4)

• Prevalence of spatial discrimination threshold in cervical dystonia patients, unaffected family members, and healthy volunteers

  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.

  Up to 6 months after consent is obtained

• Prevalence of temporal discrimination threshold in cervical dystonia patients, unaffected family members, and healthy volunteers

  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.

  Up to 6 months after consent is obtained

• Prevalence of vibration-induced illusion of movement in cervical dystonia patients, unaffected family members, and healthy volunteers

  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.

  Up to 6 months after consent is obtained

• Prevalence of impaired kinesthesia in cervical dystonia

  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.

  Up to 6 months after consent is obtained

Secondary Outcomes (1)

• Probability of concurrence of multiple non-motor features

  Up to 6 months after consent is obtained

Other Outcomes (2)

• Potential new demographic indicators of cervical dystonia

  Up to 6 months after consent is obtained

• Potential new medical indicators of cervical dystonia

  Up to 6 months after consent is obtained

Study Arms (3)

CD Patients

Subjects must have a prior diagnosis of cervical dystonia and be capable of participating in all study procedures. Subjects will undergo assessment of non-motor features.

Diagnostic Test: Assessment of Non-Motor Features

Family Members

Subjects must be a first order relation of a Vanderbilt patient diagnosed with cervical dystonia. The subject must pass a short neurological examination to ensure the subject does not have cervical dystonia or any sensory deficits. Subjects will undergo assessment of non-motor features.

Diagnostic Test: Neurological Examination; Diagnostic Test: Assessment of Non-Motor Features

Healthy volunteers

Subjects must be healthy volunteers who are neurologically normal. The subject must pass a short neurological examination to ensure the subject does not have cervical dystonia or any sensory deficits. Subjects will undergo assessment of non-motor features.

Diagnostic Test: Neurological Examination; Diagnostic Test: Assessment of Non-Motor Features

Interventions

Neurological Examination DIAGNOSTIC_TEST

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.

Family Members; Healthy volunteers

Assessment of Non-Motor Features DIAGNOSTIC_TEST

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.

CD Patients; Family Members; Healthy volunteers

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants in this study will include adults that have cervical dystonia, are healthy and related to someone with cervical dystonia, or are healthy and not related to someone with cervical dystonia (control group).

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• Vanderbilt University Medical Center: lead

Study Sites (1)

Vanderbilt University Medical Center Clinical Research Center

Nashville, Tennessee, 37232, United States

Location

Related Publications (17)

• Crowner BE. Cervical dystonia: disease profile and clinical management. Phys Ther. 2007 Nov;87(11):1511-26. doi: 10.2522/ptj.20060272. Epub 2007 Sep 18.

  PMID: 17878433 BACKGROUND

• Stacy M. Epidemiology, clinical presentation, and diagnosis of cervical dystonia. Neurol Clin. 2008 May;26 Suppl 1:23-42. doi: 10.1016/s0733-8619(08)80003-5. No abstract available.

  PMID: 18603166 BACKGROUND

• Jinnah HA, Berardelli A, Comella C, Defazio G, Delong MR, Factor S, Galpern WR, Hallett M, Ludlow CL, Perlmutter JS, Rosen AR; Dystonia Coalition Investigators. The focal dystonias: current views and challenges for future research. Mov Disord. 2013 Jun 15;28(7):926-43. doi: 10.1002/mds.25567.

  PMID: 23893450 BACKGROUND

• Stamelou M, Edwards MJ, Hallett M, Bhatia KP. The non-motor syndrome of primary dystonia: clinical and pathophysiological implications. Brain. 2012 Jun;135(Pt 6):1668-81. doi: 10.1093/brain/awr224. Epub 2011 Sep 20.

  PMID: 21933808 BACKGROUND

• Bradley D, Whelan R, Kimmich O, O'Riordan S, Mulrooney N, Brady P, Walsh R, Reilly RB, Hutchinson S, Molloy F, Hutchinson M. Temporal discrimination thresholds in adult-onset primary torsion dystonia: an analysis by task type and by dystonia phenotype. J Neurol. 2012 Jan;259(1):77-82. doi: 10.1007/s00415-011-6125-7. Epub 2011 Jun 8.

  PMID: 21656045 BACKGROUND

• Chen H, Zhao EJ, Zhang W, Lu Y, Liu R, Huang X, Ciesielski-Jones AJ, Justice MA, Cousins DS, Peddada S. Meta-analyses on prevalence of selected Parkinson's nonmotor symptoms before and after diagnosis. Transl Neurodegener. 2015 Jan 8;4(1):1. doi: 10.1186/2047-9158-4-1. eCollection 2015.

  PMID: 25671103 BACKGROUND

• Frima N, Nasir J, Grunewald RA. Abnormal vibration-induced illusion of movement in idiopathic focal dystonia: an endophenotypic marker? Mov Disord. 2008 Feb 15;23(3):373-7. doi: 10.1002/mds.21838.

  PMID: 18044715 BACKGROUND

• Molloy FM, Carr TD, Zeuner KE, Dambrosia JM, Hallett M. Abnormalities of spatial discrimination in focal and generalized dystonia. Brain. 2003 Oct;126(Pt 10):2175-82. doi: 10.1093/brain/awg219. Epub 2003 Jun 23.

  PMID: 12821512 BACKGROUND

• Fiorio M, Gambarin M, Valente EM, Liberini P, Loi M, Cossu G, Moretto G, Bhatia KP, Defazio G, Aglioti SM, Fiaschi A, Tinazzi M. Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia? Brain. 2007 Jan;130(Pt 1):134-42. doi: 10.1093/brain/awl283. Epub 2006 Nov 14.

  PMID: 17105745 BACKGROUND

• Bradley D, Whelan R, Walsh R, O'Dwyer J, Reilly R, Hutchinson S, Molloy F, Hutchinson M. Comparing endophenotypes in adult-onset primary torsion dystonia. Mov Disord. 2010 Jan 15;25(1):84-90. doi: 10.1002/mds.22889.

  PMID: 19938165 BACKGROUND

• Westenberger A, Klein C. Genetics of dystonia. In: Dystonia and Dystonic Syndromes. ; 2015:27-48. doi:10.1007/978-3-7091-1516-9_3.

  BACKGROUND

• Putzki N, Stude P, Konczak J, Graf K, Diener HC, Maschke M. Kinesthesia is impaired in focal dystonia. Mov Disord. 2006 Jun;21(6):754-60. doi: 10.1002/mds.20799.

  PMID: 16482525 BACKGROUND

• Walsh R, O'Dwyer JP, Sheikh IH, O'Riordan S, Lynch T, Hutchinson M. Sporadic adult onset dystonia: sensory abnormalities as an endophenotype in unaffected relatives. J Neurol Neurosurg Psychiatry. 2007 Sep;78(9):980-3. doi: 10.1136/jnnp.2006.105585.

  PMID: 17702779 BACKGROUND

• Bradley D, Whelan R, Walsh R, Reilly RB, Hutchinson S, Molloy F, Hutchinson M. Temporal discrimination threshold: VBM evidence for an endophenotype in adult onset primary torsion dystonia. Brain. 2009 Sep;132(Pt 9):2327-35. doi: 10.1093/brain/awp156. Epub 2009 Jun 12.

  PMID: 19525326 BACKGROUND

• Klingelhoefer L, Martino D, Martinez-Martin P, et al. Nonmotor symptoms and focal cervical dystonia: Observations from 102 patients. Basal Ganglia. 2014;4(3-4):117-120. doi:10.1016/j.baga.2014.10.002.

  BACKGROUND

• Lobbezoo F, Tanguay R, Thon MT, Lavigne GJ. Pain perception in idiopathic cervical dystonia (spasmodic torticollis). Pain. 1996 Oct;67(2-3):483-91. doi: 10.1016/0304-3959(96)03153-3.

  PMID: 8951945 BACKGROUND

• Defazio G, Jankovic J, Giel JL, Papapetropoulos S. Descriptive epidemiology of cervical dystonia. Tremor Other Hyperkinet Mov (N Y). 2013 Nov 4;3:tre-03-193-4374-2. doi: 10.7916/D80C4TGJ. eCollection 2013.

  PMID: 24255801 BACKGROUND

MeSH Terms

Conditions

Torticollis; Movement Disorders; Dystonic Disorders; Signs and Symptoms; Nervous System Diseases; Neurologic Manifestations; Neuromuscular Manifestations

Interventions

Neurologic Examination

Condition Hierarchy (Ancestors)

Dystonia; Dyskinesias; Pathological Conditions, Signs and Symptoms; Central Nervous System Diseases

Intervention Hierarchy (Ancestors)

Diagnostic Techniques, Neurological; Diagnostic Techniques and Procedures; Diagnosis; Physical Examination

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Research Instructor

Study Record Dates

• First Submitted: February 23, 2018
• First Posted: March 21, 2018
• Study Start: March 26, 2018
• Primary Completion: December 2, 2019
• Study Completion: December 2, 2019
• Last Updated: February 7, 2020

Record last verified: 2020-02

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)