Pilot Study for the Development of an Activity and Quality of Life Questionnaire for the Follow-up of Patients With Non-dystrophic Myotonia
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Non-Dystrophic Myotonia
- Sponsor
- Centre Hospitalier Universitaire de Nice
- Enrollment
- 10
- Locations
- 1
- Primary Endpoint
- Evaluate the relevance of the MNDActiveLive questionnaire
- Status
- Not yet recruiting
- Last Updated
- 2 years ago
Overview
Brief Summary
Non-dystrophic myotonias (MND) are rare neuromuscular diseases caused by mutations in the voltage-dependent channels of skeletal muscles, resulting in delayed muscle relaxation after voluntary contraction. They include various conditions such as congenital myotonia, congenital paramyotonia and sodium channel myotonia. The main characteristic is myotonia, muscle stiffness accompanied by pain, fatigue and weakness. Symptoms vary in intensity, and fluctuation complicates clinical assessment.
Until now, no validated scale to assess the severity of myotonia is the subject of a consensus among neurologists. It therefore seems necessary to establish a scale to simply and quickly assess the severity of myotonia to fill this need.
The areas of this future scale were identified by the study coordinator based on existing questionnaires and scales. These areas have been validated by a scientific committee composed of expert neurologists.
The main objective of the study is to validate the adequacy and formulation of the scale questions by involving 10 patients who will complete the questionnaire twice to assess its fidelity. At the end of the study, the committee will exclude inappropriate questions. The goal is to create a reliable scale to assess the severity of myotonia.
Investigators
Eligibility Criteria
Inclusion Criteria
- Not provided
Exclusion Criteria
- Not provided
Outcomes
Primary Outcomes
Evaluate the relevance of the MNDActiveLive questionnaire
Time Frame: The day of inclusion
The relevance of the MNDActiveLive questionnaire will be measured using patient responses to the relevance and formulation assessment grid. Indeed, it is about evaluating the percentage of relevant questions (that is, relatively relevant, perfectly relevant and relevant). The question will be considered relevant if the percentage is higher than 80%.
Secondary Outcomes
- Assess reproducible issues(The day of inclusion and 7 days after)
- Select questions to keep(The day of inclusion and 7 days after)
- Identify questions to rephrase(The day of inclusion)
- Evaluate the formulation of the MNDActiveLive questionnaire(The day of inclusion)
- Identify questions to be excluded(The day of inclusion)