Abstract
We present a cross-sectional, observational study that investigates the presence of muscle degeneration in patients with skeletal muscle sodium channel disorders (SCN4A gene mutation). This includes paramyotonia congenita (PMC), hyperkalemic periodic paralysis (HyperPP) and potassium-aggravated myotonia (PAM). Little is known about quantitative fat infiltration and contractility of patients with these disorders. So far, we have studied 13 patients (30 planned), older than 18 years and diagnosed with SCN4A mutations using dynamometry testing and quantitative (Dixon) muscle MRI.
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