CMT1A, CMT - Charcot-Marie-Tooth Disease, CMT (Charcot Marie Tooth Disease)
Conditions
Brief summary
Hereditary neuropathies are a phenotypically and genetically heterogeneous group of disorders. One of the most common forms is Charcot-Marie-Tooth neuropathy (CMT), which can be further divided into demyelinating (CMT1) and axonal (CMT2) neuropathies, as well as various pathogenic genetic variants. In addition to the clinically predominant motor and sensory deficits, symptoms of the autonomic nervous system have also been described in patients with CMT, often leading to significant limitations in daily functioning and quality of life. However, little is known about the prevalence and extent of autonomic dysfunction in CMT patients. In this study, patients with CMT will be assessed for the presence, severity, and characteristics of autonomic dysfunction using questionnaires and non-invasive diagnostic methods. Furthermore, diagnosis, genotype, and individual disease data-such as disease duration, severity of neurological impairment, and comorbidities-will be collected from patient records. The aim of this study is to evaluate and characterize autonomic dysfunction in patients with CMT. It seeks to determine how frequently autonomic dysfunction occurs in CMT, which areas of the autonomic nervous system are most commonly affected, whether risk factors exist, and what differences can be observed between the various CMT subtypes. The findings of this study are expected to provide new insights into the role of autonomic dysfunction in CMT, ultimately contributing to improved care and treatment for affected patients.
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 | Description |
|---|---|---|
| COMPASS 31 | baseline | validated questionaire |
| electrophysiological measurement | baseline | Validated electrophysiological examinations including the sympathetic skin reflex, the Schellong test, and heart rate variability measurement |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| muscle strength | baseline | — |
| neurography | baseline | Examinations measuring the electrical activity and conductivity of nerves, which are used to diagnose nerve damage or diseases. |
| nerve sonography | at visit | — |
Countries
Germany
Contacts
CONTACTMichael W Sereda, Prof. MD
Outcome results
None listed