Muscle relaxation time as outcome measure for myotonia in patients with non-dystrophic myotonic syndromes (NDMs)

Completed

• Conditions: inherited skeletal muscle stifness; non-dystrophic myotonic syndromes (NDMs); 10028302; 10029317

• Registration Number: NL-OMON35097
• Lead Sponsor: niversitair Medisch Centrum Sint Radboud

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 6 May 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 30

Inclusion Criteria

Patients with a genetically confirmed mutation in the gene encoding the skeletal muscle sodium channel (SCNA4) or skeletal muscle chloride channel (CLCN1) and healthy volunteers (18-65 years old).

Exclusion Criteria

Neurological or metabolic comorbidity which affect the muscles. The use of medication which affect myotonia or muscle strength (mainly sodium chanel blockers). Presence of renal or cardiac diseases that do not allow the participant to follow a potassium restricted diet. For the same reason, pregnant woman are not allowed to participate in this study.

Study & Design

• Study Type: Observational non invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Average muscle relaxation time (RT) of the right underarm flexors measured by<br /><br>- (1) handgrip myometry<br /><br>- (2) muscle- elastography (measured with echography)</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>none</p><br>