inherited muscle stiffness Myotonia
Conditions
Interventions
None listed
Sponsors
Universitair Medisch Centrum Sint Radboud
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: Patients with a genetically confirmed mutation in the gene encoding for the skeletal muscle sodium channel (SCN4A) or chloride channel (CLCN1) or a genetically determined mutation in the DMPK-gene, with clinical presence of hand (action) myotonia and between 18 and 65 years of age. Groups will be age and sex matched.
Exclusion criteria
Exclusion criteria: Comorbidity in form of a neurological or metabolic disorder that can interfere with normal muscle function. Usage of medication that can influence myotonia or muscle force (such as sodium channel blockers as widespreas used for cardiological and neurological diseases, that might also influence skeletal muscle channels). Cardial or Nephrological comoborbidity that do not allow a potassium low diet. Pregnant women. Unwillingness or unable to sign informed consent forms or to place the hand or lower arm in de myometry test set-up.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Outcome measures are the mean muscle-RT and intraclass-correlation-coefficient (ICC). Differences in mean muscle-RT between the group of healthy volunteers and each of the patientgroups will be a measure for the reliability and robustness of the muscle-RT as outcome measure for myotonia. This reliability will be calculated for both methods within the different patientgroups. To determine the reproducability of these measurements within both methods, the ICC will also be calculated. | — |
Secondary
| Measure | Time frame |
|---|---|
| n.v.t. | — |
Countries
Netherlands
Outcome results
None listed