TREMOR IN CHARCOT-MARIE-TOOTH

Condition(s) studied

Study 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.

Eligibility

Primary outcome measure(s)

• 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

Trial sites (1)

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