Pain in SCN4A Mutated P.A1156T muscle sodium channelopathy-a postal survey.

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The p.A1156T mutation alters the function of the voltage-gated sodium channel Nav1.4 on the muscle sarcolemma, causing a channelopathy without overt myotonia or periodic paralysis but with myalgic pain.


A postal survey was conducted to assess the prevalence and characteristics of pain and related symptoms in individuals with the p.A1156T mutation. A specific questionnaire, intensity and interference subscales of the Brief Pain Inventory, pain drawing, Widespread Pain Index, quality of life (RAND-36), and the Beck Depression Inventory were completed.


Twenty of 24 patients replied. Current pain was reported by 16 respondents; the other 4 had experienced pain previously. Most commonly, pain was widespread and exercise-induced. The severity and the impact of pain on daily life were considerable, although varied.


This sodium channelopathy is another entity in the growing number of diseases causing widespread myalgic pain that resembles the pain seen in fibromyalgia syndrome. Muscle Nerve, 2017.

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