Whole-Body Muscle MRI in Patients with Hyperkalemic Periodic Paralysis Carrying the SCN4A Mutation T704M: Evidence for Chronic Progressive Myopathy with Selective Muscle Involvement
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Background and Purpose Hyperkalemic periodic paralysis (hyperKPP) is a muscle sodium-ion channelopathy characterized by recurrent paralytic attacks. A proportion of afected individuals develop fxed or chronic progressive weakness that results in signifcant disability. However, little is known about the pathology of hyperKPP-induced fxed weakness, including the pattern of muscle involvement. Te aim of this study was to characterize the patterns of muscle involvement in hyperKPP by whole-body magnetic resonance imaging (MRI). Methods We performed whole-body muscle MRI in seven hyperKPP patients carrying the T704M mutation in the SCN4A skeletal sodium-channel gene. Muscle fat infltration, suggestive of chronic progressive myopathy, was analyzed qualitatively using a grading system and was quantifed by the two-point Dixon technique. Results Whole-body muscle MRI analysis revealed muscle atrophy and fatty infltration in hyperKPP patients, especially in older individuals. Muscle involvement followed a selective pattern, primarily affecting the posterior compartment of the lower leg and anterior thigh muscles. The muscle fat fraction increased with patient age in the anterior thigh (r=0.669, p=0.009), in the deep posterior compartment of the lower leg (r=0.617, p=0.019), and in the superfcial posterior compartment of the lower leg (r=0.777, p=0.001). Conclusions Our whole-body muscle MRI fndings provide evidence for chronic progressive myopathy in hyperKPP patients. Te reported data suggest that a selective pattern of muscle involvement—afecting the posterior compartment of the lower leg and the anterior thigh—is characteristic of chronic progressive myopathy in hyperKPP.
Abstract
Background and Purpose Hyperkalemic periodic paralysis (hyperKPP) is a muscle sodium-ion channelopathy characterized by recurrent paralytic attacks. A proportion of afected individuals develop fxed or chronic progressive weakness that results in signifcant disability. However, little is known about the pathology of hyperKPP-induced fxed weakness, including the pattern of muscle involvement. Te aim of this study was to characterize the patterns of muscle involvement in hyperKPP by whole-body magnetic resonance imaging (MRI). Methods We performed whole-body muscle MRI in seven hyperKPP patients carrying the T704M mutation in the SCN4A skeletal sodium-channel gene. Muscle fat infltration, suggestive of chronic progressive myopathy, was analyzed qualitatively using a grading system and was quantifed by the two-point Dixon technique. Results Whole-body muscle MRI analysis revealed muscle atrophy and fatty infltration in hyperKPP patients, especially in older individuals. Muscle involvement followed a selective pattern, primarily affecting the posterior compartment of the lower leg and anterior thigh muscles. The muscle fat fraction increased with patient age in the anterior thigh (r=0.669, p=0.009), in the deep posterior compartment of the lower leg (r=0.617, p=0.019), and in the superfcial posterior compartment of the lower leg (r=0.777, p=0.001). Conclusions Our whole-body muscle MRI fndings provide evidence for chronic progressive myopathy in hyperKPP patients. Te reported data suggest that a selective pattern of muscle involvement—afecting the posterior compartment of the lower leg and the anterior thigh—is characteristic of chronic progressive myopathy in hyperKPP.
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