Charcot Marie Tooth Disease, Charcot Marie Tooth Disease (CMT), CMT, CMT (Charcot Marie Tooth Disease)
Conditions
Keywords
Tremor in CMT
Brief summary
Tremor is a symptom that has already been described in many case reports and case series concerning patients with Charcot-Marie-Tooth (CMT) disease. However, the pathophysiology of tremor in this condition remains largely unclear. It has also not been sufficiently investigated to what extent tremor in CMT patients constitutes a relevant impairment of quality of life. This project focuses on a more detailed characterization of tremor in CMT patients using surface electromyography and accelerometer analysis, as well as the collection of individual clinical data, particularly regarding the symptom of tremor, in order to facilitate the characterization and etiological classification of the tremor. In addition, a questionnaire-based assessment will be conducted to capture the impact of tremor on activities of daily living and the associated burden in this specific patient cohort. The entire data collection process will be supported by a clinical examination, which will be video-recorded by experienced neurologists to ensure more reliable analysis. This serves both the characterization of tremor and the illustration of its functional limitations. Where available, the data will be correlated with genetic variants to allow conclusions about possible genetic predispositions or disease progression. As a control group, CMT patients who have not yet reported a tremor will be included.
Interventions
None listed
Sponsors
University Medical Center Goettingen
Study design
Observational model
OTHER
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 65 Years
Healthy volunteers
Yes
Inclusion criteria
* Clinical CMT Diagnosis / Anamnestically Healthy Control Group * Genetic confirmation of CMT in adult patients * Ability to achieve the outcome measure at baseline * Age between 18 and 65 years * Capacity of all study participants to consent and signed informed consent, including patient or participant information and consent form
Exclusion criteria
* Pregnancy or breastfeeding period * Other relevant neurological or psychiatric disorders, acute or in the past history * Presence of a serious previous internal disease
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Activities of Daily Living -Questionaire(ADL) | baseline |
| Assessment of Handicap - Questionaire | baseline |
| Fahn Tolosa Marin Rating Scale | baseline |
| Electrophysiological characterization of tremor using surface EMG and accelerometer analysis | baseline |
Secondary
| Measure | Time frame |
|---|---|
| MDS-UPDRS Part III without Tremor | baseline |
| SARA Score | baseline |
Countries
Germany
Contacts
CONTACTMichael W Sereda, Prof. MD
Outcome results
None listed