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Clinical Trial 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.


Clinical Trial Description

n/a


Study Design


Related Conditions & MeSH terms


NCT number NCT06136416
Study type Interventional
Source Centre Hospitalier Universitaire de Nice
Contact Sabrina SACCONI
Phone 0492035757
Email sacconi.s@chu-nice.fr
Status Not yet recruiting
Phase N/A
Start date March 2024
Completion date May 2024

See also
  Status Clinical Trial Phase
Completed NCT04799366 - Contractile Properties of Hypertrofic Muscles in Patients With Non-Dystrophic Myotonia
Recruiting NCT05639257 - Treatment of Myotonia - Lamotrigine Versus Namuscla N/A
Completed NCT00832000 - Effectiveness of Mexiletine for Treating People With Non-Dystrophic Myotonia Phase 2
Recruiting NCT05017155 - MExiletine Versus Lamotrigine in Non-Dystrophic Myotonias Phase 3