inherited skeletal muscle stifness non-dystrophic myotonic syndromes (NDMs)
Conditions
Interventions
None listed
Sponsors
Eligibility
Inclusion criteria
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
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Average muscle relaxation time (RT) of the right underarm flexors measured by - (1) handgrip myometry - (2) muscle- elastography (measured with echography) | — |
Secondary
| Measure | Time frame |
|---|---|
| none | — |
Countries
Netherlands