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Strength and muscle structure preserved during long-term therapy in a patient with hypokalemic periodic paralysis (Cav1.1-R1239G)
We report a young wheelchair-dependent patient with an unclear proximal myopathy and a heterozygous, de-novo Cav1.1-R1239G mutation suggesting hypokalemic periodic paralysis (HypoPP). Sonography showed a loss of the pennate pattern indicative of an edema, whereas fatty degeneration was excluded. Within 7  days of therapy with spironolactone, potassium and physical therapy, muscle strength almost completely normalized, a normal pennate pattern appeared and the edema was markedly reduced. She learned to walk without aid and to do sports and has continued to do so for 11 years until now. Over the yea rs, we tested serum pot...
Source: Journal of Neurology - March 31, 2019 Category: Neurology Source Type: research

Lower-extremity magnetic resonance imaging in patients with hyperkalemic periodic paralysis carrying the SCN4A mutation T704M: 30-month follow-up of seven patients
Hyperkalemic periodic paralysis (hyperKPP) is an autosomal dominant skeletal muscle channelopathy. It is caused by mutations in the SCN4A gene, which encodes the α subunit of the skeletal muscle voltage-gated sodium channel Nav1.4 [1,2]. Among SCN4A mutations associated with hyperKPP, T704M has been reported as a common causative mutation [3]. HyperKPP is characterized by recurrent transient attacks of generalized or focal muscle weakness. Some patients exp erience a chronic progressive myopathy that can cause permanent weakness, which is particularly common in old age [4].
Source: Neuromuscular Disorders - July 2, 2018 Category: Neurology Authors: Ha-Neul Jeong, Ji Sook Yi, Young Han Lee, Jung Hwan Lee, Ha Young Shin, Young-Chul Choi, Seung Min Kim Source Type: research